Linked Data
ClinVar Variation Id:
2919
ClinVar RCV Id:
RCV000003053
dbSNP Id:
rs119461976
ExAC:
9:91963010 G / A
gnomAD v2:
9-91963010-G-A
gnomAD v3:
9-89348095-G-A
gnomAD v4:
9-89348095-G-A
PubMed:
PMID:16228000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.89348095G>A , CM000671.2:g.89348095G>A | GRCh38 |
| NC_000009.11:g.91963010G>A , CM000671.1:g.91963010G>A | GRCh37 |
| NC_000009.10:g.91152830G>A | NCBI36 |
| NG_012177.1:g.34599G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375807.8:c.1619G>A MANE Select | ENSP00000364965.3:p.Arg540Gln | |
| ENST00000339901.8:c.1400G>A | ENSP00000364959.3:p.Arg467Gln | |
| ENST00000375807.7:c.1619G>A | ENSP00000364965.3:p.Arg540Gln | |
| ENST00000534113.6:c.1415G>A | ENSP00000436650.2:p.Arg472Gln | |
| NM_001282688.1:c.1616G>A | NP_001269617.1:p.Arg539Gln | |
| NM_001282689.1:c.1400G>A | NP_001269618.1:p.Arg467Gln | |
| NM_001282690.1:c.1415G>A | NP_001269619.1:p.Arg472Gln | |
| NM_024077.4:c.1619G>A | NP_076982.3:p.Arg540Gln | |
| XM_005252196.2:c.1502G>A | XP_005252253.1:p.Arg501Gln | |
| XM_005252202.2:c.722G>A | XP_005252259.1:p.Arg241Gln | |
| XM_006717282.2:c.1400G>A | XP_006717345.1:p.Arg467Gln | |
| XM_011519000.1:c.1415G>A | XP_011517302.1:p.Arg472Gln | |
| XM_011519001.1:c.1325G>A | XP_011517303.1:p.Arg442Gln | |
| XM_011519002.1:c.1301G>A | XP_011517304.1:p.Arg434Gln | |
| XM_011519003.1:c.1298G>A | XP_011517305.1:p.Arg433Gln | |
| XR_929840.1:n.1777G>A | ||
| XR_929841.1:n.1777G>A | ||
| XR_929842.1:n.1777G>A | ||
| XR_929843.1:n.1777G>A | ||
| NM_001354696.1:c.1502G>A | NP_001341625.1:p.Arg501Gln | |
| NM_001354697.1:c.1505G>A | NP_001341626.1:p.Arg502Gln | |
| NM_001354698.1:c.1412G>A | NP_001341627.1:p.Arg471Gln | |
| NM_001354702.1:c.734G>A | NP_001341631.1:p.Arg245Gln | |
| XM_011519000.2:c.1415G>A | XP_011517302.1:p.Arg472Gln | |
| XM_017015122.2:c.1529G>A | XP_016870611.1:p.Arg510Gln | |
| XM_024447666.1:c.1415G>A | XP_024303434.1:p.Arg472Gln | |
| XM_024447667.1:c.1283G>A | XP_024303435.1:p.Arg428Gln | |
| XM_024447668.1:c.722G>A | XP_024303436.1:p.Arg241Gln | |
| XM_024447669.1:c.722G>A | XP_024303437.1:p.Arg241Gln | |
| XR_001746376.1:n.1777G>A | ||
| XR_001746377.1:n.1777G>A | ||
| XR_001746378.1:n.1777G>A | ||
| XR_002956807.1:n.1777G>A | ||
| NM_001282688.2:c.1616G>A | NP_001269617.1:p.Arg539Gln | |
| NM_001282689.2:c.1400G>A | NP_001269618.1:p.Arg467Gln | |
| NM_001354696.2:c.1502G>A | NP_001341625.1:p.Arg501Gln | |
| NM_001354697.2:c.1505G>A | NP_001341626.1:p.Arg502Gln | |
| NM_001354698.2:c.1412G>A | NP_001341627.1:p.Arg471Gln | |
| NM_001354702.2:c.734G>A | NP_001341631.1:p.Arg245Gln | |
| NM_024077.5:c.1619G>A MANE Select | NP_076982.3:p.Arg540Gln |