SNP Links for Protein (Select 767950714) - SNP

Select item 14899233381.

rs1489923338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:29186333 (GRCh38)
8:29043850 (GRCh37)
Canonical SPDI:: NC_000008.11:29186332:T:C
Gene:: KIF13B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29186333T>C, NC_000008.10:g.29043850T>C, XM_011544459.4:c.264A>G, XM_011544459.3:c.264A>G, XM_011544459.2:c.264A>G, XM_011544459.1:c.264A>G, XM_011544460.4:c.264A>G, XM_011544460.3:c.264A>G, XM_011544460.2:c.264A>G, XM_011544460.1:c.264A>G, NM_015254.4:c.456A>G, NM_015254.3:c.456A>G, XM_011544457.2:c.456A>G, XM_011544457.1:c.456A>G, XM_011544458.2:c.456A>G, XM_011544458.1:c.456A>G, XM_005273458.2:c.456A>G, XM_005273458.1:c.456A>G, XM_017013257.2:c.456A>G, XM_017013257.1:c.456A>G, XM_047421619.1:c.264A>G

Select item 14894171072.

rs1489417107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:29155827 (GRCh38)
8:29013344 (GRCh37)
Canonical SPDI:: NC_000008.11:29155826:G:A
Gene:: KIF13B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.29155827G>A, NC_000008.10:g.29013344G>A, XM_011544459.4:c.1242C>T, XM_011544459.3:c.1242C>T, XM_011544459.2:c.1242C>T, XM_011544459.1:c.1242C>T, XM_011544460.4:c.1242C>T, XM_011544460.3:c.1242C>T, XM_011544460.2:c.1242C>T, XM_011544460.1:c.1242C>T, NM_015254.4:c.1434C>T, NM_015254.3:c.1434C>T, XM_011544457.2:c.1434C>T, XM_011544457.1:c.1434C>T, XM_011544458.2:c.1434C>T, XM_011544458.1:c.1434C>T, XM_005273458.2:c.1434C>T, XM_005273458.1:c.1434C>T, XM_017013257.2:c.1434C>T, XM_017013257.1:c.1434C>T, XM_047421619.1:c.1242C>T

Select item 14890186453.

rs1489018645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:29127223 (GRCh38)
8:28984740 (GRCh37)
Canonical SPDI:: NC_000008.11:29127222:A:T
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.29127223A>T, NC_000008.10:g.28984740A>T, XM_011544459.4:c.2929T>A, XM_011544459.3:c.2929T>A, XM_011544459.2:c.2929T>A, XM_011544459.1:c.2929T>A, XM_011544460.4:c.2929T>A, XM_011544460.3:c.2929T>A, XM_011544460.2:c.2929T>A, XM_011544460.1:c.2929T>A, NM_015254.4:c.3121T>A, NM_015254.3:c.3121T>A, XM_011544457.2:c.3121T>A, XM_011544457.1:c.3121T>A, XM_011544458.2:c.3121T>A, XM_011544458.1:c.3121T>A, XM_005273458.2:c.3121T>A, XM_005273458.1:c.3121T>A, XM_017013257.2:c.3121T>A, XM_017013257.1:c.3121T>A, XM_047421619.1:c.2929T>A, XP_011542761.1:p.Ser977Thr, XP_011542762.1:p.Ser977Thr, NP_056069.2:p.Ser1041Thr, XP_011542759.1:p.Ser1041Thr, XP_011542760.1:p.Ser1041Thr, XP_005273515.1:p.Ser1041Thr, XP_016868746.1:p.Ser1041Thr, XP_047277575.1:p.Ser977Thr

Select item 14879350244.

rs1487935024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:29181985 (GRCh38)
8:29039502 (GRCh37)
Canonical SPDI:: NC_000008.11:29181984:G:T
Gene:: KIF13B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.29181985G>T, NC_000008.10:g.29039502G>T, XM_011544459.4:c.327C>A, XM_011544459.3:c.327C>A, XM_011544459.2:c.327C>A, XM_011544459.1:c.327C>A, XM_011544460.4:c.327C>A, XM_011544460.3:c.327C>A, XM_011544460.2:c.327C>A, XM_011544460.1:c.327C>A, NM_015254.4:c.519C>A, NM_015254.3:c.519C>A, XM_011544457.2:c.519C>A, XM_011544457.1:c.519C>A, XM_011544458.2:c.519C>A, XM_011544458.1:c.519C>A, XM_005273458.2:c.519C>A, XM_005273458.1:c.519C>A, XM_017013257.2:c.519C>A, XM_017013257.1:c.519C>A, XM_047421619.1:c.327C>A

Select item 14876846455.

rs1487684645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:29176160 (GRCh38)
8:29033677 (GRCh37)
Canonical SPDI:: NC_000008.11:29176159:G:C
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.29176160G>C, NC_000008.10:g.29033677G>C, XM_011544459.4:c.661C>G, XM_011544459.3:c.661C>G, XM_011544459.2:c.661C>G, XM_011544459.1:c.661C>G, XM_011544460.4:c.661C>G, XM_011544460.3:c.661C>G, XM_011544460.2:c.661C>G, XM_011544460.1:c.661C>G, NM_015254.4:c.853C>G, NM_015254.3:c.853C>G, XM_011544457.2:c.853C>G, XM_011544457.1:c.853C>G, XM_011544458.2:c.853C>G, XM_011544458.1:c.853C>G, XM_005273458.2:c.853C>G, XM_005273458.1:c.853C>G, XM_017013257.2:c.853C>G, XM_017013257.1:c.853C>G, XM_047421619.1:c.661C>G, XP_011542761.1:p.Leu221Val, XP_011542762.1:p.Leu221Val, NP_056069.2:p.Leu285Val, XP_011542759.1:p.Leu285Val, XP_011542760.1:p.Leu285Val, XP_005273515.1:p.Leu285Val, XP_016868746.1:p.Leu285Val, XP_047277575.1:p.Leu221Val

Select item 14868697486.

rs1486869748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:29147397 (GRCh38)
8:29004914 (GRCh37)
Canonical SPDI:: NC_000008.11:29147396:C:T
Gene:: KIF13B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29147397C>T, NC_000008.10:g.29004914C>T, XM_011544459.4:c.1827G>A, XM_011544459.3:c.1827G>A, XM_011544459.2:c.1827G>A, XM_011544459.1:c.1827G>A, XM_011544460.4:c.1827G>A, XM_011544460.3:c.1827G>A, XM_011544460.2:c.1827G>A, XM_011544460.1:c.1827G>A, NM_015254.4:c.2019G>A, NM_015254.3:c.2019G>A, XM_011544457.2:c.2019G>A, XM_011544457.1:c.2019G>A, XM_011544458.2:c.2019G>A, XM_011544458.1:c.2019G>A, XM_005273458.2:c.2019G>A, XM_005273458.1:c.2019G>A, XM_017013257.2:c.2019G>A, XM_017013257.1:c.2019G>A, XM_047421619.1:c.1827G>A

Select item 14865813877.

rs1486581387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:29148663 (GRCh38)
8:29006180 (GRCh37)
Canonical SPDI:: NC_000008.11:29148662:T:C
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29148663T>C, NC_000008.10:g.29006180T>C, XM_011544459.4:c.1535A>G, XM_011544459.3:c.1535A>G, XM_011544459.2:c.1535A>G, XM_011544459.1:c.1535A>G, XM_011544460.4:c.1535A>G, XM_011544460.3:c.1535A>G, XM_011544460.2:c.1535A>G, XM_011544460.1:c.1535A>G, NM_015254.4:c.1727A>G, NM_015254.3:c.1727A>G, XM_011544457.2:c.1727A>G, XM_011544457.1:c.1727A>G, XM_011544458.2:c.1727A>G, XM_011544458.1:c.1727A>G, XM_005273458.2:c.1727A>G, XM_005273458.1:c.1727A>G, XM_017013257.2:c.1727A>G, XM_017013257.1:c.1727A>G, XM_047421619.1:c.1535A>G, XP_011542761.1:p.Asp512Gly, XP_011542762.1:p.Asp512Gly, NP_056069.2:p.Asp576Gly, XP_011542759.1:p.Asp576Gly, XP_011542760.1:p.Asp576Gly, XP_005273515.1:p.Asp576Gly, XP_016868746.1:p.Asp576Gly, XP_047277575.1:p.Asp512Gly

Select item 14861514188.

rs1486151418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:29167415 (GRCh38)
8:29024932 (GRCh37)
Canonical SPDI:: NC_000008.11:29167414:C:T
Gene:: KIF13B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29167415C>T, NC_000008.10:g.29024932C>T, XM_011544459.4:c.924G>A, XM_011544459.3:c.924G>A, XM_011544459.2:c.924G>A, XM_011544459.1:c.924G>A, XM_011544460.4:c.924G>A, XM_011544460.3:c.924G>A, XM_011544460.2:c.924G>A, XM_011544460.1:c.924G>A, NM_015254.4:c.1116G>A, NM_015254.3:c.1116G>A, XM_011544457.2:c.1116G>A, XM_011544457.1:c.1116G>A, XM_011544458.2:c.1116G>A, XM_011544458.1:c.1116G>A, XM_005273458.2:c.1116G>A, XM_005273458.1:c.1116G>A, XM_017013257.2:c.1116G>A, XM_017013257.1:c.1116G>A, XM_047421619.1:c.924G>A

Select item 14850518219.

rs1485051821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:29147456 (GRCh38)
8:29004973 (GRCh37)
Canonical SPDI:: NC_000008.11:29147455:T:G
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29147456T>G, NC_000008.10:g.29004973T>G, XM_011544459.4:c.1768A>C, XM_011544459.3:c.1768A>C, XM_011544459.2:c.1768A>C, XM_011544459.1:c.1768A>C, XM_011544460.4:c.1768A>C, XM_011544460.3:c.1768A>C, XM_011544460.2:c.1768A>C, XM_011544460.1:c.1768A>C, NM_015254.4:c.1960A>C, NM_015254.3:c.1960A>C, XM_011544457.2:c.1960A>C, XM_011544457.1:c.1960A>C, XM_011544458.2:c.1960A>C, XM_011544458.1:c.1960A>C, XM_005273458.2:c.1960A>C, XM_005273458.1:c.1960A>C, XM_017013257.2:c.1960A>C, XM_017013257.1:c.1960A>C, XM_047421619.1:c.1768A>C, XP_011542761.1:p.Met590Leu, XP_011542762.1:p.Met590Leu, NP_056069.2:p.Met654Leu, XP_011542759.1:p.Met654Leu, XP_011542760.1:p.Met654Leu, XP_005273515.1:p.Met654Leu, XP_016868746.1:p.Met654Leu, XP_047277575.1:p.Met590Leu

Select item 148487090910.

rs1484870909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:29072238 (GRCh38)
8:28929755 (GRCh37)
Canonical SPDI:: NC_000008.11:29072237:T:C,NC_000008.11:29072237:T:G
Gene:: KIF13B (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.29072238T>C, NC_000008.11:g.29072238T>G, NC_000008.10:g.28929755T>C, NC_000008.10:g.28929755T>G, XM_011544459.4:c.4471A>G, XM_011544459.4:c.4471A>C, XM_011544459.3:c.4471A>G, XM_011544459.3:c.4471A>C, XM_011544459.2:c.4471A>G, XM_011544459.2:c.4471A>C, XM_011544459.1:c.4471A>G, XM_011544459.1:c.4471A>C, XM_011544460.4:c.4471A>G, XM_011544460.4:c.4471A>C, XM_011544460.3:c.4471A>G, XM_011544460.3:c.4471A>C, XM_011544460.2:c.4471A>G, XM_011544460.2:c.4471A>C, XM_011544460.1:c.4471A>G, XM_011544460.1:c.4471A>C, NM_015254.4:c.4600A>G, NM_015254.4:c.4600A>C, NM_015254.3:c.4600A>G, NM_015254.3:c.4600A>C, XM_011544457.2:c.4663A>G, XM_011544457.2:c.4663A>C, XM_011544457.1:c.4663A>G, XM_011544457.1:c.4663A>C, XM_011544458.2:c.4600A>G, XM_011544458.2:c.4600A>C, XM_011544458.1:c.4600A>G, XM_011544458.1:c.4600A>C, XM_005273458.2:c.4537A>G, XM_005273458.2:c.4537A>C, XM_005273458.1:c.4537A>G, XM_005273458.1:c.4537A>C, XM_017013257.2:c.*56A>G, XM_017013257.2:c.*56A>C, XM_017013257.1:c.*56A>G, XM_017013257.1:c.*56A>C, XM_047421619.1:c.4471A>G, XM_047421619.1:c.4471A>C, XP_011542761.1:p.Lys1491Glu, XP_011542761.1:p.Lys1491Gln, XP_011542762.1:p.Lys1491Glu, XP_011542762.1:p.Lys1491Gln, NP_056069.2:p.Lys1534Glu, NP_056069.2:p.Lys1534Gln, XP_011542759.1:p.Lys1555Glu, XP_011542759.1:p.Lys1555Gln, XP_011542760.1:p.Lys1534Glu, XP_011542760.1:p.Lys1534Gln, XP_005273515.1:p.Lys1513Glu, XP_005273515.1:p.Lys1513Gln, XP_047277575.1:p.Lys1491Glu, XP_047277575.1:p.Lys1491Gln

Select item 148471060011.

rs1484710600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:29109383 (GRCh38)
8:28966900 (GRCh37)
Canonical SPDI:: NC_000008.11:29109382:G:T
Gene:: KIF13B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.29109383G>T, NC_000008.10:g.28966900G>T, XM_011544459.4:c.4020C>A, XM_011544459.3:c.4020C>A, XM_011544459.2:c.4020C>A, XM_011544459.1:c.4020C>A, XM_011544460.4:c.4020C>A, XM_011544460.3:c.4020C>A, XM_011544460.2:c.4020C>A, XM_011544460.1:c.4020C>A, XM_011544457.2:c.4212C>A, XM_011544457.1:c.4212C>A, XM_011544458.2:c.4212C>A, XM_011544458.1:c.4212C>A, XM_017013257.2:c.4212C>A, XM_017013257.1:c.4212C>A, XM_047421619.1:c.4020C>A

Select item 148443842612.

rs1484438426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:29071785 (GRCh38)
8:28929302 (GRCh37)
Canonical SPDI:: NC_000008.11:29071784:G:T
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29071785G>T, NC_000008.10:g.28929302G>T, XM_011544459.4:c.4924C>A, XM_011544459.3:c.4924C>A, XM_011544459.2:c.4924C>A, XM_011544459.1:c.4924C>A, XM_011544460.4:c.4924C>A, XM_011544460.3:c.4924C>A, XM_011544460.2:c.4924C>A, XM_011544460.1:c.4924C>A, NM_015254.4:c.5053C>A, NM_015254.3:c.5053C>A, XM_011544457.2:c.5116C>A, XM_011544457.1:c.5116C>A, XM_011544458.2:c.5053C>A, XM_011544458.1:c.5053C>A, XM_005273458.2:c.4990C>A, XM_005273458.1:c.4990C>A, XM_047421619.1:c.4924C>A, XP_011542761.1:p.Gln1642Lys, XP_011542762.1:p.Gln1642Lys, NP_056069.2:p.Gln1685Lys, XP_011542759.1:p.Gln1706Lys, XP_011542760.1:p.Gln1685Lys, XP_005273515.1:p.Gln1664Lys, XP_047277575.1:p.Gln1642Lys

Select item 148438780813.

rs1484387808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:29075313 (GRCh38)
8:28932830 (GRCh37)
Canonical SPDI:: NC_000008.11:29075312:T:C
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29075313T>C, NC_000008.10:g.28932830T>C, XM_011544459.4:c.4360A>G, XM_011544459.3:c.4360A>G, XM_011544459.2:c.4360A>G, XM_011544459.1:c.4360A>G, XM_011544460.4:c.4360A>G, XM_011544460.3:c.4360A>G, XM_011544460.2:c.4360A>G, XM_011544460.1:c.4360A>G, NM_015254.4:c.4489A>G, NM_015254.3:c.4489A>G, XM_011544457.2:c.4552A>G, XM_011544457.1:c.4552A>G, XM_017013257.2:c.4418A>G, XM_017013257.1:c.4418A>G, XM_047421619.1:c.4360A>G, XP_011542761.1:p.Ser1454Gly, XP_011542762.1:p.Ser1454Gly, NP_056069.2:p.Ser1497Gly, XP_011542759.1:p.Ser1518Gly, XP_016868746.1:p.Gln1473Arg, XP_047277575.1:p.Ser1454Gly

Select item 148419751414.

rs1484197514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:29071773 (GRCh38)
8:28929290 (GRCh37)
Canonical SPDI:: NC_000008.11:29071772:A:G
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.29071773A>G, NC_000008.10:g.28929290A>G, XM_011544459.4:c.4936T>C, XM_011544459.3:c.4936T>C, XM_011544459.2:c.4936T>C, XM_011544459.1:c.4936T>C, XM_011544460.4:c.4936T>C, XM_011544460.3:c.4936T>C, XM_011544460.2:c.4936T>C, XM_011544460.1:c.4936T>C, NM_015254.4:c.5065T>C, NM_015254.3:c.5065T>C, XM_011544457.2:c.5128T>C, XM_011544457.1:c.5128T>C, XM_011544458.2:c.5065T>C, XM_011544458.1:c.5065T>C, XM_005273458.2:c.5002T>C, XM_005273458.1:c.5002T>C, XM_047421619.1:c.4936T>C, XP_011542761.1:p.Ser1646Pro, XP_011542762.1:p.Ser1646Pro, NP_056069.2:p.Ser1689Pro, XP_011542759.1:p.Ser1710Pro, XP_011542760.1:p.Ser1689Pro, XP_005273515.1:p.Ser1668Pro, XP_047277575.1:p.Ser1646Pro

Select item 148365243415.

rs1483652434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:29167496 (GRCh38)
8:29025013 (GRCh37)
Canonical SPDI:: NC_000008.11:29167495:C:T
Gene:: KIF13B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.29167496C>T, NC_000008.10:g.29025013C>T, XM_011544459.4:c.843G>A, XM_011544459.3:c.843G>A, XM_011544459.2:c.843G>A, XM_011544459.1:c.843G>A, XM_011544460.4:c.843G>A, XM_011544460.3:c.843G>A, XM_011544460.2:c.843G>A, XM_011544460.1:c.843G>A, NM_015254.4:c.1035G>A, NM_015254.3:c.1035G>A, XM_011544457.2:c.1035G>A, XM_011544457.1:c.1035G>A, XM_011544458.2:c.1035G>A, XM_011544458.1:c.1035G>A, XM_005273458.2:c.1035G>A, XM_005273458.1:c.1035G>A, XM_017013257.2:c.1035G>A, XM_017013257.1:c.1035G>A, XM_047421619.1:c.843G>A

Select item 148283950416.

rs1482839504 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:29167384 (GRCh38)
8:29024902 (GRCh37)
Canonical SPDI:: NC_000008.11:29167384:C:CC
Gene:: KIF13B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.29167385dup, NC_000008.10:g.29024902dup, XM_011544459.4:c.954dup, XM_011544459.3:c.954dup, XM_011544459.2:c.954dup, XM_011544459.1:c.954dup, XM_011544460.4:c.954dup, XM_011544460.3:c.954dup, XM_011544460.2:c.954dup, XM_011544460.1:c.954dup, NM_015254.4:c.1146dup, NM_015254.3:c.1146dup, XM_011544457.2:c.1146dup, XM_011544457.1:c.1146dup, XM_011544458.2:c.1146dup, XM_011544458.1:c.1146dup, XM_005273458.2:c.1146dup, XM_005273458.1:c.1146dup, XM_017013257.2:c.1146dup, XM_017013257.1:c.1146dup, XM_047421619.1:c.954dup, XP_011542761.1:p.Thr319fs, XP_011542762.1:p.Thr319fs, NP_056069.2:p.Thr383fs, XP_011542759.1:p.Thr383fs, XP_011542760.1:p.Thr383fs, XP_005273515.1:p.Thr383fs, XP_016868746.1:p.Thr383fs, XP_047277575.1:p.Thr319fs

Select item 148102619417.

rs1481026194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:29122608 (GRCh38)
8:28980125 (GRCh37)
Canonical SPDI:: NC_000008.11:29122607:A:G
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.29122608A>G, NC_000008.10:g.28980125A>G, XM_011544459.4:c.3326T>C, XM_011544459.3:c.3326T>C, XM_011544459.2:c.3326T>C, XM_011544459.1:c.3326T>C, XM_011544460.4:c.3326T>C, XM_011544460.3:c.3326T>C, XM_011544460.2:c.3326T>C, XM_011544460.1:c.3326T>C, NM_015254.4:c.3518T>C, NM_015254.3:c.3518T>C, XM_011544457.2:c.3518T>C, XM_011544457.1:c.3518T>C, XM_011544458.2:c.3518T>C, XM_011544458.1:c.3518T>C, XM_005273458.2:c.3518T>C, XM_005273458.1:c.3518T>C, XM_017013257.2:c.3518T>C, XM_017013257.1:c.3518T>C, XM_047421619.1:c.3326T>C, XP_011542761.1:p.Ile1109Thr, XP_011542762.1:p.Ile1109Thr, NP_056069.2:p.Ile1173Thr, XP_011542759.1:p.Ile1173Thr, XP_011542760.1:p.Ile1173Thr, XP_005273515.1:p.Ile1173Thr, XP_016868746.1:p.Ile1173Thr, XP_047277575.1:p.Ile1109Thr

Select item 148098918518.

rs1480989185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:29110029 (GRCh38)
8:28967546 (GRCh37)
Canonical SPDI:: NC_000008.11:29110028:C:G
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.29110029C>G, NC_000008.10:g.28967546C>G, XM_011544459.4:c.3780G>C, XM_011544459.3:c.3780G>C, XM_011544459.2:c.3780G>C, XM_011544459.1:c.3780G>C, XM_011544460.4:c.3780G>C, XM_011544460.3:c.3780G>C, XM_011544460.2:c.3780G>C, XM_011544460.1:c.3780G>C, NM_015254.4:c.3972G>C, NM_015254.3:c.3972G>C, XM_011544457.2:c.3972G>C, XM_011544457.1:c.3972G>C, XM_011544458.2:c.3972G>C, XM_011544458.1:c.3972G>C, XM_005273458.2:c.3972G>C, XM_005273458.1:c.3972G>C, XM_017013257.2:c.3972G>C, XM_017013257.1:c.3972G>C, XM_047421619.1:c.3780G>C, XP_011542761.1:p.Met1260Ile, XP_011542762.1:p.Met1260Ile, NP_056069.2:p.Met1324Ile, XP_011542759.1:p.Met1324Ile, XP_011542760.1:p.Met1324Ile, XP_005273515.1:p.Met1324Ile, XP_016868746.1:p.Met1324Ile, XP_047277575.1:p.Met1260Ile

Select item 148093352519.

rs1480933525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:29109982 (GRCh38)
8:28967499 (GRCh37)
Canonical SPDI:: NC_000008.11:29109981:A:G
Gene:: KIF13B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.00006/1 (TOMMO)
HGVS:: NC_000008.11:g.29109982A>G, NC_000008.10:g.28967499A>G, XM_011544459.4:c.3827T>C, XM_011544459.3:c.3827T>C, XM_011544459.2:c.3827T>C, XM_011544459.1:c.3827T>C, XM_011544460.4:c.3827T>C, XM_011544460.3:c.3827T>C, XM_011544460.2:c.3827T>C, XM_011544460.1:c.3827T>C, NM_015254.4:c.4019T>C, NM_015254.3:c.4019T>C, XM_011544457.2:c.4019T>C, XM_011544457.1:c.4019T>C, XM_011544458.2:c.4019T>C, XM_011544458.1:c.4019T>C, XM_005273458.2:c.4019T>C, XM_005273458.1:c.4019T>C, XM_017013257.2:c.4019T>C, XM_017013257.1:c.4019T>C, XM_047421619.1:c.3827T>C, XP_011542761.1:p.Ile1276Thr, XP_011542762.1:p.Ile1276Thr, NP_056069.2:p.Ile1340Thr, XP_011542759.1:p.Ile1340Thr, XP_011542760.1:p.Ile1340Thr, XP_005273515.1:p.Ile1340Thr, XP_016868746.1:p.Ile1340Thr, XP_047277575.1:p.Ile1276Thr

Select item 147985241620.

rs1479852416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:29072071 (GRCh38)
8:28929588 (GRCh37)
Canonical SPDI:: NC_000008.11:29072070:C:T
Gene:: KIF13B (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.29072071C>T, NC_000008.10:g.28929588C>T, XM_011544459.4:c.4638G>A, XM_011544459.3:c.4638G>A, XM_011544459.2:c.4638G>A, XM_011544459.1:c.4638G>A, XM_011544460.4:c.4638G>A, XM_011544460.3:c.4638G>A, XM_011544460.2:c.4638G>A, XM_011544460.1:c.4638G>A, NM_015254.4:c.4767G>A, NM_015254.3:c.4767G>A, XM_011544457.2:c.4830G>A, XM_011544457.1:c.4830G>A, XM_011544458.2:c.4767G>A, XM_011544458.1:c.4767G>A, XM_005273458.2:c.4704G>A, XM_005273458.1:c.4704G>A, XM_047421619.1:c.4638G>A

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