Linked Data
ClinVar Variation Id:
132813
dbSNP Id:
rs587777395
ExAC:
1:110172109 G / A
gnomAD v2:
1-110172109-G-A
gnomAD v3:
1-109629487-G-A
gnomAD v4:
1-109629487-G-A
PubMed:
PMID:23911318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109629487G>A , CM000663.2:g.109629487G>A | GRCh38 |
| NC_000001.10:g.110172109G>A , CM000663.1:g.110172109G>A | GRCh37 |
| NC_000001.9:g.109973632G>A | NCBI36 |
| NG_034075.1:g.14675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1859G>A | ENSP00000256578.4:p.Arg620His | |
| ENST00000358729.9:c.1859G>A | ENSP00000351573.5:p.Arg620His | |
| ENST00000369840.7:c.1859G>A | ENSP00000358855.3:p.Arg620His | |
| ENST00000474459.6:n.2478G>A | ||
| ENST00000476688.3:c.1541G>A | ENSP00000437025.2:p.Arg514His | |
| ENST00000486282.7:n.3116+1G>A | ||
| ENST00000524975.2:n.2642G>A | ||
| ENST00000525415.2:n.2374+1G>A | ||
| ENST00000526301.6:n.1922G>A | ||
| ENST00000527846.7:n.1714G>A | ||
| ENST00000528667.7:c.1859G>A MANE Select | ENSP00000436541.2:p.Arg620His | |
| ENST00000531203.6:c.1667G>A | ENSP00000431975.2:p.Arg556His | |
| ENST00000531734.6:c.1778G>A | ENSP00000433739.2:p.Arg593His | |
| ENST00000652975.2:c.*1611G>A | ENSP00000499620.2:n.*1611G>A | |
| ENST00000654851.1:n.1701G>A | ||
| ENST00000655992.1:c.1667G>A | ENSP00000499740.1:p.Arg556His | |
| ENST00000659122.2:c.1695G>A | ENSP00000499621.2:n.1695G>A | |
| ENST00000663749.1:c.*1606G>A | ENSP00000499739.1:n.*1606G>A | |
| ENST00000667949.2:c.1259G>A | ENSP00000499465.2:p.Arg420His | |
| ENST00000668421.1:c.*1800G>A | ENSP00000499362.1:n.*1800G>A | |
| ENST00000679379.1:c.*1611G>A | ENSP00000505528.1:n.*1611G>A | |
| ENST00000679593.1:c.1858+1G>A | ENSP00000505999.1:n.1858+1G>A | |
| ENST00000679880.1:n.2395G>A | ||
| ENST00000679892.1:c.*1627G>A | ENSP00000504882.1:n.*1627G>A | |
| ENST00000679981.1:c.*1873G>A | ENSP00000506422.1:n.*1873G>A | |
| ENST00000680132.1:c.*1809G>A | ENSP00000505950.1:n.*1809G>A | |
| ENST00000680148.1:c.*1610+1G>A | ENSP00000505994.1:n.*1610+1G>A | |
| ENST00000680170.1:n.2724G>A | ||
| ENST00000680192.1:n.3119G>A | ||
| ENST00000680519.1:n.2095G>A | ||
| ENST00000680531.1:c.*1606G>A | ENSP00000506332.1:n.*1606G>A | |
| ENST00000680820.1:c.*1913G>A | ENSP00000505735.1:n.*1913G>A | |
| ENST00000680832.1:c.*1959G>A | ENSP00000505774.1:n.*1959G>A | |
| ENST00000680929.1:c.*1548G>A | ENSP00000504916.1:n.*1548G>A | |
| ENST00000681108.1:c.*1533G>A | ENSP00000506701.1:n.*1533G>A | |
| ENST00000681121.1:c.*969G>A | ENSP00000506466.1:n.*969G>A | |
| ENST00000681132.1:c.*1625G>A | ENSP00000506195.1:n.*1625G>A | |
| ENST00000681181.1:c.*2146G>A | ENSP00000506038.1:n.*2146G>A | |
| ENST00000681218.1:c.*2131+1G>A | ENSP00000505976.1:n.*2131+1G>A | |
| ENST00000681246.1:c.*1515G>A | ENSP00000505534.1:n.*1515G>A | |
| ENST00000681496.1:c.*2132G>A | ENSP00000505948.1:n.*2132G>A | |
| ENST00000681834.1:n.2198G>A | ||
| ENST00000681862.1:c.*1985G>A | ENSP00000505537.1:n.*1985G>A | |
| ENST00000256578.7:c.2021G>A | ENSP00000256578.3:p.Arg674His | |
| ENST00000342115.8:c.1778G>A | ENSP00000345498.4:p.Arg593His | |
| ENST00000358729.8:c.1796G>A | ENSP00000351573.4:p.Arg599His | |
| ENST00000369840.6:c.1932G>A | ||
| ENST00000393688.7:c.1664G>A | ENSP00000377292.3:p.Arg555His | |
| ENST00000476688.2:c.187G>A | ||
| ENST00000479919.1:n.304G>A | ||
| ENST00000526301.5:n.2060G>A | ||
| ENST00000528454.5:c.1667G>A | ENSP00000437164.1:p.Arg556His | |
| ENST00000528667.5:c.2021G>A | ENSP00000436541.1:p.Arg674His | |
| ENST00000532851.1:n.660G>A | ||
| ENST00000533132.1:n.652G>A | ||
| NM_001257360.1:c.2021G>A | NP_001244289.1:p.Arg674His | |
| NM_001257361.1:c.1667G>A | NP_001244290.1:p.Arg556His | |
| NM_001308170.1:c.1796G>A | NP_001295099.1:p.Arg599His | |
| NM_004037.7:c.2021G>A | NP_004028.3:p.Arg674His | |
| NM_139156.3:c.1778G>A | NP_631895.1:p.Arg593His | |
| NM_203404.1:c.1664G>A | NP_981949.1:p.Arg555His | |
| XM_011541247.1:c.2234G>A | XP_011539549.1:p.Arg745His | |
| XR_946607.1:n.2257G>A | ||
| XM_024446431.1:c.1796G>A | XP_024302199.1:p.Arg599His | |
| XM_024446432.1:c.1718G>A | XP_024302200.1:p.Arg573His | |
| XR_002956282.1:n.2432G>A | ||
| NM_001257360.2:c.2021G>A | NP_001244289.1:p.Arg674His | |
| NM_001368809.2:c.1859G>A MANE Select | NP_001355738.1:p.Arg620His | |
| NM_004037.9:c.1859G>A | NP_004028.4:p.Arg620His | |
| NM_001257361.2:c.1667G>A | NP_001244290.1:p.Arg556His | |
| NM_139156.4:c.1778G>A | NP_631895.1:p.Arg593His |