Linked Data
ClinVar Variation Id:
43322
dbSNP Id:
rs200313391
ExAC:
11:76922359 G / A
gnomAD v2:
11-76922359-G-A
gnomAD v3:
11-77211314-G-A
gnomAD v4:
11-77211314-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211314G>A , CM000673.2:g.77211314G>A | GRCh38 |
| NC_000011.9:g.76922359G>A , CM000673.1:g.76922359G>A | GRCh37 |
| NC_000011.8:g.76600007G>A | NCBI36 |
| NG_009086.1:g.88050G>A | |
| NG_009086.2:g.88069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6214G>A MANE Select | ENSP00000386331.3:p.Val2072Ile | |
| ENST00000670577.1:c.4015G>A | ||
| ENST00000409619.6:c.6067G>A | ENSP00000386635.2:p.Val2023Ile | |
| ENST00000409709.7:c.6214G>A | ENSP00000386331.3:p.Val2072Ile | |
| ENST00000458169.2:c.3640G>A | ENSP00000417017.2:p.Val1214Ile | |
| ENST00000458637.6:c.6100G>A | ENSP00000392185.2:p.Val2034Ile | |
| ENST00000481328.7:n.3750G>A | ||
| ENST00000526863.2:n.25+403G>A | ||
| ENST00000605744.1:n.1681G>A | ||
| NM_000260.3:c.6214G>A | NP_000251.3:p.Val2072Ile | |
| NM_001127180.1:c.6100G>A | NP_001120652.1:p.Val2034Ile | |
| XM_005274012.2:c.6097G>A | XP_005274069.1:p.Val2033Ile | |
| XM_006718558.2:c.6205G>A | XP_006718621.1:p.Val2069Ile | |
| XM_006718559.2:c.6100G>A | XP_006718622.1:p.Val2034Ile | |
| XM_006718560.2:c.6097G>A | XP_006718623.1:p.Val2033Ile | |
| XM_006718561.2:c.6100G>A | XP_006718624.1:p.Val2034Ile | |
| XM_011545044.1:c.6214G>A | XP_011543346.1:p.Val2072Ile | |
| XM_011545045.1:c.6208G>A | XP_011543347.1:p.Val2070Ile | |
| XM_011545046.1:c.6181G>A | XP_011543348.1:p.Val2061Ile | |
| XM_011545047.1:c.6118G>A | XP_011543349.1:p.Val2040Ile | |
| XM_011545048.1:c.5989G>A | XP_011543350.1:p.Val1997Ile | |
| XM_011545049.1:c.5977G>A | XP_011543351.1:p.Val1993Ile | |
| XM_011545050.1:c.5950G>A | XP_011543352.1:p.Val1984Ile | |
| XM_011545051.1:c.6214G>A | XP_011543353.1:p.Val2072Ile | |
| XR_949938.1:n.6534G>A | ||
| XR_949941.1:n.6508G>A | ||
| XM_011545044.2:c.6214G>A | XP_011543346.1:p.Val2072Ile | |
| XM_011545046.2:c.6304G>A | XP_011543348.2:p.Val2102Ile | |
| XM_011545050.2:c.5950G>A | XP_011543352.1:p.Val1984Ile | |
| XM_017017778.1:c.6298G>A | XP_016873267.1:p.Val2100Ile | |
| XM_017017779.1:c.6295G>A | XP_016873268.1:p.Val2099Ile | |
| XM_017017780.1:c.6304G>A | XP_016873269.1:p.Val2102Ile | |
| XM_017017781.1:c.6208G>A | XP_016873270.1:p.Val2070Ile | |
| XM_017017782.1:c.6190G>A | XP_016873271.1:p.Val2064Ile | |
| XM_017017783.1:c.6187G>A | XP_016873272.1:p.Val2063Ile | |
| XM_017017784.1:c.6187G>A | XP_016873273.1:p.Val2063Ile | |
| XM_017017785.1:c.6067G>A | XP_016873274.1:p.Val2023Ile | |
| XM_017017786.1:c.6304G>A | XP_016873275.1:p.Val2102Ile | |
| XM_017017788.1:c.6190G>A | XP_016873277.1:p.Val2064Ile | |
| XR_001747885.1:n.6293G>A | ||
| XR_001747887.1:n.6279G>A | ||
| NM_000260.4:c.6214G>A MANE Select | NP_000251.3:p.Val2072Ile | |
| NM_001127180.2:c.6100G>A | NP_001120652.1:p.Val2034Ile | |
| NM_001369365.1:c.6067G>A | NP_001356294.1:p.Val2023Ile |