SNP Links for Protein (Select 157412280) - SNP

Links from Protein

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Select item 14906527851.

rs1490652785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:38121004 (GRCh38)
8:37978522 (GRCh37)
Canonical SPDI:: NC_000008.11:38121003:C:G
Gene:: ASH2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38121004C>G, NC_000008.10:g.37978522C>G, NM_004674.5:c.1020C>G, NM_004674.4:c.1020C>G, XM_006716413.4:c.1020C>G, XM_006716413.3:c.1020C>G, XM_006716413.2:c.1020C>G, XM_006716413.1:c.1020C>G, XM_005273683.2:c.756C>G, XM_005273683.1:c.756C>G, NM_001105214.2:c.738C>G, XM_005273682.2:c.1038C>G, XM_005273682.1:c.1038C>G, XM_006716412.2:c.1038C>G, XM_006716412.1:c.1038C>G, NM_001261832.1:c.738C>G, NR_049736.1:n.932C>G, NM_001282272.1:c.603C>G

Select item 14889737012.

rs1488973701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38110746 (GRCh38)
8:37968264 (GRCh37)
Canonical SPDI:: NC_000008.11:38110745:G:A
Gene:: ASH2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38110746G>A, NC_000008.10:g.37968264G>A, NM_004674.5:c.498G>A, NM_004674.4:c.498G>A, XM_006716413.4:c.498G>A, XM_006716413.3:c.498G>A, XM_006716413.2:c.498G>A, XM_006716413.1:c.498G>A, XM_005273683.2:c.216G>A, XM_005273683.1:c.216G>A, NM_001105214.2:c.216G>A, XM_005273682.2:c.498G>A, XM_005273682.1:c.498G>A, XM_006716412.2:c.498G>A, XM_006716412.1:c.498G>A, NM_001261832.1:c.216G>A, NR_049736.1:n.410G>A, NM_001282272.1:c.81G>A

Select item 14885763733.

rs1488576373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:38138833 (GRCh38)
8:37996351 (GRCh37)
Canonical SPDI:: NC_000008.11:38138832:A:C
Gene:: ASH2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.38138833A>C, NC_000008.10:g.37996351A>C, NM_004674.5:c.1737A>C, NM_004674.4:c.1737A>C, XM_006716413.4:c.1638A>C, XM_006716413.3:c.1638A>C, XM_006716413.2:c.1638A>C, XM_006716413.1:c.1638A>C, XM_005273683.2:c.1473A>C, XM_005273683.1:c.1473A>C, NM_001105214.2:c.1455A>C, XM_005273682.2:c.1755A>C, XM_005273682.1:c.1755A>C, XM_006716412.2:c.1656A>C, XM_006716412.1:c.1656A>C, NM_001261832.1:c.1356A>C, NR_049736.1:n.1649A>C, NM_001282272.1:c.1320A>C

Select item 14874329384.

rs1487432938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38107141 (GRCh38)
8:37964659 (GRCh37)
Canonical SPDI:: NC_000008.11:38107140:G:A
Gene:: ASH2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.38107141G>A, NC_000008.10:g.37964659G>A, NM_004674.5:c.376G>A, NM_004674.4:c.376G>A, XM_006716413.4:c.376G>A, XM_006716413.3:c.376G>A, XM_006716413.2:c.376G>A, XM_006716413.1:c.376G>A, XM_005273683.2:c.94G>A, XM_005273683.1:c.94G>A, NM_001105214.2:c.94G>A, XM_005273682.2:c.376G>A, XM_005273682.1:c.376G>A, XM_006716412.2:c.376G>A, XM_006716412.1:c.376G>A, NM_001261832.1:c.94G>A, NP_004665.2:p.Ala126Thr, XP_006716476.1:p.Ala126Thr, XP_005273740.1:p.Ala32Thr, NP_001098684.1:p.Ala32Thr, XP_005273739.1:p.Ala126Thr, XP_006716475.1:p.Ala126Thr, NP_001248761.1:p.Ala32Thr

Select item 14803705485.

rs1480370548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38128763 (GRCh38)
8:37986281 (GRCh37)
Canonical SPDI:: NC_000008.11:38128762:C:T
Gene:: ASH2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38128763C>T, NC_000008.10:g.37986281C>T, NM_004674.5:c.1339C>T, NM_004674.4:c.1339C>T, XM_006716413.4:c.1339C>T, XM_006716413.3:c.1339C>T, XM_006716413.2:c.1339C>T, XM_006716413.1:c.1339C>T, XM_005273683.2:c.1075C>T, XM_005273683.1:c.1075C>T, NM_001105214.2:c.1057C>T, XM_005273682.2:c.1357C>T, XM_005273682.1:c.1357C>T, XM_006716412.2:c.1357C>T, XM_006716412.1:c.1357C>T, NM_001261832.1:c.1057C>T, NR_049736.1:n.1251C>T, NM_001282272.1:c.922C>T, NP_004665.2:p.Leu447Phe, XP_006716476.1:p.Leu447Phe, XP_005273740.1:p.Leu359Phe, NP_001098684.1:p.Leu353Phe, XP_005273739.1:p.Leu453Phe, XP_006716475.1:p.Leu453Phe, NP_001248761.1:p.Leu353Phe, NP_001269201.1:p.Leu308Phe

Select item 14795247726.

rs1479524772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:38128413 (GRCh38)
8:37985931 (GRCh37)
Canonical SPDI:: NC_000008.11:38128412:A:T
Gene:: ASH2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38128413A>T, NC_000008.10:g.37985931A>T, NM_004674.5:c.1288A>T, NM_004674.4:c.1288A>T, XM_006716413.4:c.1288A>T, XM_006716413.3:c.1288A>T, XM_006716413.2:c.1288A>T, XM_006716413.1:c.1288A>T, XM_005273683.2:c.1024A>T, XM_005273683.1:c.1024A>T, NM_001105214.2:c.1006A>T, XM_005273682.2:c.1306A>T, XM_005273682.1:c.1306A>T, XM_006716412.2:c.1306A>T, XM_006716412.1:c.1306A>T, NM_001261832.1:c.1006A>T, NR_049736.1:n.1200A>T, NM_001282272.1:c.871A>T, NP_004665.2:p.Met430Leu, XP_006716476.1:p.Met430Leu, XP_005273740.1:p.Met342Leu, NP_001098684.1:p.Met336Leu, XP_005273739.1:p.Met436Leu, XP_006716475.1:p.Met436Leu, NP_001248761.1:p.Met336Leu, NP_001269201.1:p.Met291Leu

Select item 14762313067.

rs1476231306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38139059 (GRCh38)
8:37996577 (GRCh37)
Canonical SPDI:: NC_000008.11:38139058:A:G
Gene:: ASH2L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.38139059A>G, NC_000008.10:g.37996577A>G, NM_004674.5:c.1875A>G, NM_004674.4:c.1875A>G, XM_006716413.4:c.1776A>G, XM_006716413.3:c.1776A>G, XM_006716413.2:c.1776A>G, XM_006716413.1:c.1776A>G, XM_005273683.2:c.1611A>G, XM_005273683.1:c.1611A>G, NM_001105214.2:c.1593A>G, XM_005273682.2:c.1893A>G, XM_005273682.1:c.1893A>G, XM_006716412.2:c.1794A>G, XM_006716412.1:c.1794A>G, NM_001261832.1:c.1494A>G, NR_049736.1:n.1787A>G, NM_001282272.1:c.1458A>G

Select item 14750452548.

rs1475045254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38135739 (GRCh38)
8:37993257 (GRCh37)
Canonical SPDI:: NC_000008.11:38135738:A:G
Gene:: ASH2L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38135739A>G, NC_000008.10:g.37993257A>G, NM_004674.5:c.1692A>G, NM_004674.4:c.1692A>G, XM_005273683.2:c.1428A>G, XM_005273683.1:c.1428A>G, NM_001105214.2:c.1410A>G, XM_005273682.2:c.1710A>G, XM_005273682.1:c.1710A>G, NR_049736.1:n.1604A>G, NM_001282272.1:c.1275A>G

Select item 14746878039.

rs1474687803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38119359 (GRCh38)
8:37976877 (GRCh37)
Canonical SPDI:: NC_000008.11:38119358:C:T
Gene:: ASH2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38119359C>T, NC_000008.10:g.37976877C>T, NM_004674.5:c.943C>T, NM_004674.4:c.943C>T, XM_006716413.4:c.943C>T, XM_006716413.3:c.943C>T, XM_006716413.2:c.943C>T, XM_006716413.1:c.943C>T, XM_005273683.2:c.679C>T, XM_005273683.1:c.679C>T, NM_001105214.2:c.661C>T, XM_005273682.2:c.961C>T, XM_005273682.1:c.961C>T, XM_006716412.2:c.961C>T, XM_006716412.1:c.961C>T, NM_001261832.1:c.661C>T, NR_049736.1:n.855C>T, NM_001282272.1:c.526C>T, NP_004665.2:p.Arg315Trp, XP_006716476.1:p.Arg315Trp, XP_005273740.1:p.Arg227Trp, NP_001098684.1:p.Arg221Trp, XP_005273739.1:p.Arg321Trp, XP_006716475.1:p.Arg321Trp, NP_001248761.1:p.Arg221Trp, NP_001269201.1:p.Arg176Trp

Select item 147232703810.

rs1472327038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:38114992 (GRCh38)
8:37972510 (GRCh37)
Canonical SPDI:: NC_000008.11:38114991:T:C
Gene:: ASH2L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.38114992T>C, NC_000008.10:g.37972510T>C, NM_004674.5:c.769T>C, NM_004674.4:c.769T>C, XM_006716413.4:c.769T>C, XM_006716413.3:c.769T>C, XM_006716413.2:c.769T>C, XM_006716413.1:c.769T>C, XM_005273683.2:c.487T>C, XM_005273683.1:c.487T>C, NM_001105214.2:c.487T>C, XM_005273682.2:c.769T>C, XM_005273682.1:c.769T>C, XM_006716412.2:c.769T>C, XM_006716412.1:c.769T>C, NM_001261832.1:c.487T>C, NR_049736.1:n.681T>C, NM_001282272.1:c.352T>C

Select item 147085093311.

rs1470850933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38121017 (GRCh38)
8:37978535 (GRCh37)
Canonical SPDI:: NC_000008.11:38121016:C:T
Gene:: ASH2L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000048/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000028/7 (GnomAD_exomes)
T=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.38121017C>T, NC_000008.10:g.37978535C>T, NM_004674.5:c.1033C>T, NM_004674.4:c.1033C>T, XM_006716413.4:c.1033C>T, XM_006716413.3:c.1033C>T, XM_006716413.2:c.1033C>T, XM_006716413.1:c.1033C>T, XM_005273683.2:c.769C>T, XM_005273683.1:c.769C>T, NM_001105214.2:c.751C>T, XM_005273682.2:c.1051C>T, XM_005273682.1:c.1051C>T, XM_006716412.2:c.1051C>T, XM_006716412.1:c.1051C>T, NM_001261832.1:c.751C>T, NR_049736.1:n.945C>T, NM_001282272.1:c.616C>T

Select item 146879625112.

rs1468796251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:38128918 (GRCh38)
8:37986436 (GRCh37)
Canonical SPDI:: NC_000008.11:38128917:A:T
Gene:: ASH2L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38128918A>T, NC_000008.10:g.37986436A>T, NM_004674.5:c.1494A>T, NM_004674.4:c.1494A>T, XM_006716413.4:c.1494A>T, XM_006716413.3:c.1494A>T, XM_006716413.2:c.1494A>T, XM_006716413.1:c.1494A>T, XM_005273683.2:c.1230A>T, XM_005273683.1:c.1230A>T, NM_001105214.2:c.1212A>T, XM_005273682.2:c.1512A>T, XM_005273682.1:c.1512A>T, XM_006716412.2:c.1512A>T, XM_006716412.1:c.1512A>T, NM_001261832.1:c.1212A>T, NR_049736.1:n.1406A>T, NM_001282272.1:c.1077A>T

Select item 146862696513.

rs1468626965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38135759 (GRCh38)
8:37993277 (GRCh37)
Canonical SPDI:: NC_000008.11:38135758:G:A
Gene:: ASH2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38135759G>A, NC_000008.10:g.37993277G>A, NM_004674.5:c.1712G>A, NM_004674.4:c.1712G>A, XM_005273683.2:c.1448G>A, XM_005273683.1:c.1448G>A, NM_001105214.2:c.1430G>A, XM_005273682.2:c.1730G>A, XM_005273682.1:c.1730G>A, NR_049736.1:n.1624G>A, NM_001282272.1:c.1295G>A, NP_004665.2:p.Ser571Asn, XP_005273740.1:p.Ser483Asn, NP_001098684.1:p.Ser477Asn, XP_005273739.1:p.Ser577Asn, NP_001269201.1:p.Ser432Asn

Select item 146752347814.

rs1467523478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38114257 (GRCh38)
8:37971775 (GRCh37)
Canonical SPDI:: NC_000008.11:38114256:G:A
Gene:: ASH2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.38114257G>A, NC_000008.10:g.37971775G>A, NM_004674.5:c.651G>A, NM_004674.4:c.651G>A, XM_006716413.4:c.651G>A, XM_006716413.3:c.651G>A, XM_006716413.2:c.651G>A, XM_006716413.1:c.651G>A, XM_005273683.2:c.369G>A, XM_005273683.1:c.369G>A, NM_001105214.2:c.369G>A, XM_005273682.2:c.651G>A, XM_005273682.1:c.651G>A, XM_006716412.2:c.651G>A, XM_006716412.1:c.651G>A, NM_001261832.1:c.369G>A, NR_049736.1:n.563G>A, NM_001282272.1:c.234G>A, NP_004665.2:p.Met217Ile, XP_006716476.1:p.Met217Ile, XP_005273740.1:p.Met123Ile, NP_001098684.1:p.Met123Ile, XP_005273739.1:p.Met217Ile, XP_006716475.1:p.Met217Ile, NP_001248761.1:p.Met123Ile, NP_001269201.1:p.Met78Ile

Select item 146512114415.

rs1465121144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 8:38106424 (GRCh38)
8:37963942 (GRCh37)
Canonical SPDI:: NC_000008.11:38106423:T:A,NC_000008.11:38106423:T:G
Gene:: ASH2L (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38106424T>A, NC_000008.11:g.38106424T>G, NC_000008.10:g.37963942T>A, NC_000008.10:g.37963942T>G, NM_004674.5:c.235T>A, NM_004674.5:c.235T>G, NM_004674.4:c.235T>A, NM_004674.4:c.235T>G, XM_006716413.4:c.235T>A, XM_006716413.4:c.235T>G, XM_006716413.3:c.235T>A, XM_006716413.3:c.235T>G, XM_006716413.2:c.235T>A, XM_006716413.2:c.235T>G, XM_006716413.1:c.235T>A, XM_006716413.1:c.235T>G, XM_005273683.2:c.-48T>A, XM_005273683.2:c.-48T>G, XM_005273683.1:c.-48T>A, XM_005273683.1:c.-48T>G, NM_001105214.2:c.-48T>A, NM_001105214.2:c.-48T>G, XM_005273682.2:c.235T>A, XM_005273682.2:c.235T>G, XM_005273682.1:c.235T>A, XM_005273682.1:c.235T>G, XM_006716412.2:c.235T>A, XM_006716412.2:c.235T>G, XM_006716412.1:c.235T>A, XM_006716412.1:c.235T>G, NM_001261832.1:c.-48T>A, NM_001261832.1:c.-48T>G, NR_049736.1:n.293T>A, NR_049736.1:n.293T>G, NM_001282272.1:c.-37T>A, NM_001282272.1:c.-37T>G, NP_004665.2:p.Ser79Thr, NP_004665.2:p.Ser79Ala, XP_006716476.1:p.Ser79Thr, XP_006716476.1:p.Ser79Ala, XP_005273739.1:p.Ser79Thr, XP_005273739.1:p.Ser79Ala, XP_006716475.1:p.Ser79Thr, XP_006716475.1:p.Ser79Ala

Select item 146385395316.

rs1463853953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38119283 (GRCh38)
8:37976801 (GRCh37)
Canonical SPDI:: NC_000008.11:38119282:A:G
Gene:: ASH2L (Varview)
Functional Consequence:: synonymous_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.38119283A>G, NC_000008.10:g.37976801A>G, NM_004674.5:c.867A>G, NM_004674.4:c.867A>G, XM_006716413.4:c.867A>G, XM_006716413.3:c.867A>G, XM_006716413.2:c.867A>G, XM_006716413.1:c.867A>G, XM_005273683.2:c.603A>G, XM_005273683.1:c.603A>G, NM_001105214.2:c.585A>G, XM_005273682.2:c.885A>G, XM_005273682.1:c.885A>G, XM_006716412.2:c.885A>G, XM_006716412.1:c.885A>G, NM_001261832.1:c.585A>G, NR_049736.1:n.779A>G, NM_001282272.1:c.450A>G

Select item 146354511817.

rs1463545118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38110434 (GRCh38)
8:37967952 (GRCh37)
Canonical SPDI:: NC_000008.11:38110433:A:G
Gene:: ASH2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38110434A>G, NC_000008.10:g.37967952A>G, NM_004674.5:c.457A>G, NM_004674.4:c.457A>G, XM_006716413.4:c.457A>G, XM_006716413.3:c.457A>G, XM_006716413.2:c.457A>G, XM_006716413.1:c.457A>G, XM_005273683.2:c.175A>G, XM_005273683.1:c.175A>G, NM_001105214.2:c.175A>G, XM_005273682.2:c.457A>G, XM_005273682.1:c.457A>G, XM_006716412.2:c.457A>G, XM_006716412.1:c.457A>G, NM_001261832.1:c.175A>G, NR_049736.1:n.369A>G, NM_001282272.1:c.40A>G, NP_004665.2:p.Ser153Gly, XP_006716476.1:p.Ser153Gly, XP_005273740.1:p.Ser59Gly, NP_001098684.1:p.Ser59Gly, XP_005273739.1:p.Ser153Gly, XP_006716475.1:p.Ser153Gly, NP_001248761.1:p.Ser59Gly, NP_001269201.1:p.Ser14Gly

Select item 145838732518.

rs1458387325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:38105711 (GRCh38)
8:37963229 (GRCh37)
Canonical SPDI:: NC_000008.11:38105710:A:C
Gene:: ASH2L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38105711A>C, NC_000008.10:g.37963229A>C, NM_004674.5:c.161A>C, NM_004674.4:c.161A>C, XM_006716413.4:c.161A>C, XM_006716413.3:c.161A>C, XM_006716413.2:c.161A>C, XM_006716413.1:c.161A>C, XM_005273682.2:c.161A>C, XM_005273682.1:c.161A>C, XM_006716412.2:c.161A>C, XM_006716412.1:c.161A>C, NR_049736.1:n.219A>C, NM_001282272.1:c.-111A>C, NP_004665.2:p.Glu54Ala, XP_006716476.1:p.Glu54Ala, XP_005273739.1:p.Glu54Ala, XP_006716475.1:p.Glu54Ala

Select item 145674065219.

rs1456740652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:38128934 (GRCh38)
8:37986452 (GRCh37)
Canonical SPDI:: NC_000008.11:38128933:G:T
Gene:: ASH2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.38128934G>T, NC_000008.10:g.37986452G>T, NM_004674.5:c.1510G>T, NM_004674.4:c.1510G>T, XM_006716413.4:c.1510G>T, XM_006716413.3:c.1510G>T, XM_006716413.2:c.1510G>T, XM_006716413.1:c.1510G>T, XM_005273683.2:c.1246G>T, XM_005273683.1:c.1246G>T, NM_001105214.2:c.1228G>T, XM_005273682.2:c.1528G>T, XM_005273682.1:c.1528G>T, XM_006716412.2:c.1528G>T, XM_006716412.1:c.1528G>T, NM_001261832.1:c.1228G>T, NR_049736.1:n.1422G>T, NM_001282272.1:c.1093G>T, NP_004665.2:p.Asp504Tyr, XP_006716476.1:p.Asp504Tyr, XP_005273740.1:p.Asp416Tyr, NP_001098684.1:p.Asp410Tyr, XP_005273739.1:p.Asp510Tyr, XP_006716475.1:p.Asp510Tyr, NP_001248761.1:p.Asp410Tyr, NP_001269201.1:p.Asp365Tyr

Select item 145397188120.

rs1453971881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:38105695 (GRCh38)
8:37963213 (GRCh37)
Canonical SPDI:: NC_000008.11:38105694:G:T
Gene:: ASH2L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38105695G>T, NC_000008.10:g.37963213G>T, NM_004674.5:c.145G>T, NM_004674.4:c.145G>T, XM_006716413.4:c.145G>T, XM_006716413.3:c.145G>T, XM_006716413.2:c.145G>T, XM_006716413.1:c.145G>T, XM_005273682.2:c.145G>T, XM_005273682.1:c.145G>T, XM_006716412.2:c.145G>T, XM_006716412.1:c.145G>T, NR_049736.1:n.203G>T, NM_001282272.1:c.-127G>T, NP_004665.2:p.Ala49Ser, XP_006716476.1:p.Ala49Ser, XP_005273739.1:p.Ala49Ser, XP_006716475.1:p.Ala49Ser

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