SNP Links for Nucleotide (Select 509155858) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:31729102 (GRCh38)
12:31882036 (GRCh37)
Canonical SPDI:: NC_000012.12:31729101:G:C
Gene:: AMN1 (Varview), LOC105369722 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.31729102G>C, NC_000012.11:g.31882036G>C, XM_017018965.3:c.-218C>G, XM_017018965.2:c.-218C>G, XM_017018965.1:c.-218C>G, NM_001278412.1:c.-357C>G, NR_103522.1:n.73C>G, NM_001113402.1:c.-94C>G, NR_004854.1:n.73C>G, NM_001278411.1:c.-128C>G, NR_103523.1:n.73C>G

Select item 147030557913.

rs1470305579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31672311 (GRCh38)
12:31825245 (GRCh37)
Canonical SPDI:: NC_000012.12:31672310:A:G
Gene:: AMN1 (Varview), ETFBKMT (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.31672311A>G, NC_000012.11:g.31825245A>G, XM_006719054.4:c.623T>C, XM_006719054.3:c.623T>C, XM_006719054.2:c.623T>C, XM_006719054.1:c.623T>C, NM_173802.4:c.*4321A>G, XM_017018965.3:c.716T>C, XM_017018965.2:c.716T>C, XM_017018965.1:c.716T>C, XM_024448925.2:c.*4321A>G, XM_024448925.1:c.*4321A>G, XM_024448924.2:c.*4321A>G, XM_024448924.1:c.*4321A>G, XM_024448923.2:c.*4321A>G, XM_024448923.1:c.*4321A>G, NM_001135863.2:c.*4321A>G, NM_001135864.2:c.*4321A>G, NM_001278412.2:c.716T>C, NM_001278412.1:c.716T>C, NR_103522.2:n.946T>C, NR_103522.1:n.1099T>C, NM_001113402.2:c.770T>C, NM_001113402.1:c.770T>C, NM_001278411.2:c.716T>C, NM_001278411.1:c.716T>C, NR_004854.1:n.916T>C, NR_103523.1:n.803T>C, NM_207337.1:c.635T>C, XP_006719117.1:p.Val208Ala, XP_016874454.1:p.Val239Ala, NP_001265341.1:p.Val239Ala, NP_001106873.1:p.Val257Ala, NP_001265340.1:p.Val239Ala

Select item 146548894914.

rs1465488949 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 12:31671914 (GRCh38)
12:31824849 (GRCh37)
Canonical SPDI:: NC_000012.12:31671914::GG
Gene:: AMN1 (Varview), ETFBKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
GG=0.000004/1 (TOPMED)
GG=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.31671914_31671915insGG, NC_000012.11:g.31824848_31824849insGG, XM_006719054.4:c.*389_*390insCC, XM_006719054.3:c.*389_*390insCC, XM_006719054.2:c.*389_*390insCC, XM_006719054.1:c.*389_*390insCC, NM_173802.4:c.*3924_*3925insGG, XM_017018965.3:c.*389_*390insCC, XM_017018965.2:c.*389_*390insCC, XM_017018965.1:c.*389_*390insCC, XM_024448925.2:c.*3924_*3925insGG, XM_024448925.1:c.*3924_*3925insGG, XM_024448924.2:c.*3924_*3925insGG, XM_024448924.1:c.*3924_*3925insGG, XM_024448923.2:c.*3924_*3925insGG, XM_024448923.1:c.*3924_*3925insGG, NM_001135863.2:c.*3924_*3925insGG, NM_001135864.2:c.*3924_*3925insGG, NM_001278412.2:c.*389_*390insCC, NM_001278412.1:c.*389_*390insCC, NR_103522.2:n.1342_1343insCC, NR_103522.1:n.1495_1496insCC, NM_001113402.2:c.*389_*390insCC, NM_001113402.1:c.*389_*390insCC, NM_001278411.2:c.*389_*390insCC, NM_001278411.1:c.*389_*390insCC, NR_004854.1:n.1312_1313insCC, NR_103523.1:n.1199_1200insCC, NM_207337.1:c.*389_*390insCC

Select item 146306191515.

rs1463061915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31672238 (GRCh38)
12:31825172 (GRCh37)
Canonical SPDI:: NC_000012.12:31672237:A:G
Gene:: AMN1 (Varview), ETFBKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.31672238A>G, NC_000012.11:g.31825172A>G, XM_006719054.4:c.*66T>C, XM_006719054.3:c.*66T>C, XM_006719054.2:c.*66T>C, XM_006719054.1:c.*66T>C, NM_173802.4:c.*4248A>G, XM_017018965.3:c.*66T>C, XM_017018965.2:c.*66T>C, XM_017018965.1:c.*66T>C, XM_024448925.2:c.*4248A>G, XM_024448925.1:c.*4248A>G, XM_024448924.2:c.*4248A>G, XM_024448924.1:c.*4248A>G, XM_024448923.2:c.*4248A>G, XM_024448923.1:c.*4248A>G, NM_001135863.2:c.*4248A>G, NM_001135864.2:c.*4248A>G, NM_001278412.2:c.*66T>C, NM_001278412.1:c.*66T>C, NR_103522.2:n.1019T>C, NR_103522.1:n.1172T>C, NM_001113402.2:c.*66T>C, NM_001113402.1:c.*66T>C, NM_001278411.2:c.*66T>C, NM_001278411.1:c.*66T>C, NR_004854.1:n.989T>C, NR_103523.1:n.876T>C, NM_207337.1:c.*66T>C

Select item 146238872316.

rs1462388723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:31671397 (GRCh38)
12:31824331 (GRCh37)
Canonical SPDI:: NC_000012.12:31671396:G:T
Gene:: AMN1 (Varview), ETFBKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000012.12:g.31671397G>T, NC_000012.11:g.31824331G>T, XM_006719054.4:c.*907C>A, XM_006719054.3:c.*907C>A, NM_173802.4:c.*3407G>T, XM_017018965.3:c.*907C>A, XM_017018965.2:c.*907C>A, XM_017018965.1:c.*907C>A, XM_024448925.2:c.*3407G>T, XM_024448925.1:c.*3407G>T, XM_024448924.2:c.*3407G>T, XM_024448924.1:c.*3407G>T, XM_024448923.2:c.*3407G>T, XM_024448923.1:c.*3407G>T, NM_001135863.2:c.*3407G>T, NM_001135864.2:c.*3407G>T, NM_001278412.2:c.*907C>A, NM_001278412.1:c.*907C>A, NR_103522.2:n.1860C>A, NR_103522.1:n.2013C>A, NM_001113402.2:c.*907C>A, NM_001113402.1:c.*907C>A, NM_001278411.2:c.*907C>A, NM_001278411.1:c.*907C>A, NR_004854.1:n.1830C>A, NR_103523.1:n.1717C>A, NM_207337.1:c.*907C>A

Select item 146136503217.

rs1461365032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:31672265 (GRCh38)
12:31825199 (GRCh37)
Canonical SPDI:: NC_000012.12:31672264:T:C
Gene:: AMN1 (Varview), ETFBKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31672265T>C, NC_000012.11:g.31825199T>C, XM_006719054.4:c.*39A>G, XM_006719054.3:c.*39A>G, XM_006719054.2:c.*39A>G, XM_006719054.1:c.*39A>G, NM_173802.4:c.*4275T>C, XM_017018965.3:c.*39A>G, XM_017018965.2:c.*39A>G, XM_017018965.1:c.*39A>G, XM_024448925.2:c.*4275T>C, XM_024448925.1:c.*4275T>C, XM_024448924.2:c.*4275T>C, XM_024448924.1:c.*4275T>C, XM_024448923.2:c.*4275T>C, XM_024448923.1:c.*4275T>C, NM_001135863.2:c.*4275T>C, NM_001135864.2:c.*4275T>C, NM_001278412.2:c.*39A>G, NM_001278412.1:c.*39A>G, NR_103522.2:n.992A>G, NR_103522.1:n.1145A>G, NM_001113402.2:c.*39A>G, NM_001113402.1:c.*39A>G, NM_001278411.2:c.*39A>G, NM_001278411.1:c.*39A>G, NR_004854.1:n.962A>G, NR_103523.1:n.849A>G, NM_207337.1:c.*39A>G

Select item 146104873718.

rs1461048737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31729166 (GRCh38)
12:31882100 (GRCh37)
Canonical SPDI:: NC_000012.12:31729165:A:G
Gene:: AMN1 (Varview), LOC105369722 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.31729166A>G, NC_000012.11:g.31882100A>G, XM_017018965.3:c.-282T>C, XM_017018965.2:c.-282T>C, XM_017018965.1:c.-282T>C, NM_001278412.1:c.-421T>C, NR_103522.1:n.9T>C, NM_001113402.1:c.-158T>C, NR_004854.1:n.9T>C, NM_001278411.1:c.-192T>C, NR_103523.1:n.9T>C

Select item 145939545819.

rs1459395458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:31671599 (GRCh38)
12:31824533 (GRCh37)
Canonical SPDI:: NC_000012.12:31671598:T:C
Gene:: AMN1 (Varview), ETFBKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.31671599T>C, NC_000012.11:g.31824533T>C, XM_006719054.4:c.*705A>G, XM_006719054.3:c.*705A>G, XM_006719054.1:c.*705A>G, NM_173802.4:c.*3609T>C, XM_017018965.3:c.*705A>G, XM_017018965.2:c.*705A>G, XM_017018965.1:c.*705A>G, XM_024448925.2:c.*3609T>C, XM_024448925.1:c.*3609T>C, XM_024448924.2:c.*3609T>C, XM_024448924.1:c.*3609T>C, XM_024448923.2:c.*3609T>C, XM_024448923.1:c.*3609T>C, NM_001135863.2:c.*3609T>C, NM_001135864.2:c.*3609T>C, NM_001278412.2:c.*705A>G, NM_001278412.1:c.*705A>G, NR_103522.2:n.1658A>G, NR_103522.1:n.1811A>G, NM_001113402.2:c.*705A>G, NM_001113402.1:c.*705A>G, NM_001278411.2:c.*705A>G, NM_001278411.1:c.*705A>G, NR_004854.1:n.1628A>G, NR_103523.1:n.1515A>G, NM_207337.1:c.*705A>G

Select item 145854629320.

rs1458546293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31689052 (GRCh38)
12:31841986 (GRCh37)
Canonical SPDI:: NC_000012.12:31689051:G:A
Gene:: AMN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.31689052G>A, NC_000012.11:g.31841986G>A, XM_006719054.4:c.511C>T, XM_006719054.3:c.511C>T, XM_006719054.2:c.511C>T, XM_006719054.1:c.511C>T, XM_017018965.3:c.604C>T, XM_017018965.2:c.604C>T, XM_017018965.1:c.604C>T, NM_001278412.2:c.604C>T, NM_001278412.1:c.604C>T, NR_103522.2:n.747C>T, NR_103522.1:n.900C>T, NM_001113402.2:c.658C>T, NM_001113402.1:c.658C>T, NM_001278411.2:c.604C>T, NM_001278411.1:c.604C>T, NR_004854.1:n.804C>T, NR_103523.1:n.691C>T, NM_207337.1:c.523C>T, XP_006719117.1:p.Pro171Ser, XP_016874454.1:p.Pro202Ser, NP_001265341.1:p.Pro202Ser, NP_001106873.1:p.Pro220Ser, NP_001265340.1:p.Pro202Ser

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Result Filters

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Items: 1 to 20 of 446

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