Linked Data
ClinVar Variation Id:
1455394
ClinVar RCV Id:
RCV001970014
dbSNP Id:
rs1957851371
gnomAD v4:
11-77211332-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211332A>T , CM000673.2:g.77211332A>T | GRCh38 |
| NC_000011.9:g.76922377A>T , CM000673.1:g.76922377A>T | GRCh37 |
| NC_000011.8:g.76600025A>T | NCBI36 |
| NG_009086.1:g.88068A>T | |
| NG_009086.2:g.88087A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6232A>T MANE Select | ENSP00000386331.3:p.Lys2078Ter | |
| ENST00000670577.1:c.4033A>T | ||
| ENST00000409619.6:c.6085A>T | ENSP00000386635.2:p.Lys2029Ter | |
| ENST00000409709.7:c.6232A>T | ENSP00000386331.3:p.Lys2078Ter | |
| ENST00000458169.2:c.3658A>T | ENSP00000417017.2:p.Lys1220Ter | |
| ENST00000458637.6:c.6118A>T | ENSP00000392185.2:p.Lys2040Ter | |
| ENST00000481328.7:n.3768A>T | ||
| ENST00000526863.2:n.25+421A>T | ||
| ENST00000605744.1:n.1699A>T | ||
| NM_000260.3:c.6232A>T | NP_000251.3:p.Lys2078Ter | |
| NM_001127180.1:c.6118A>T | NP_001120652.1:p.Lys2040Ter | |
| XM_005274012.2:c.6115A>T | XP_005274069.1:p.Lys2039Ter | |
| XM_006718558.2:c.6223A>T | XP_006718621.1:p.Lys2075Ter | |
| XM_006718559.2:c.6118A>T | XP_006718622.1:p.Lys2040Ter | |
| XM_006718560.2:c.6115A>T | XP_006718623.1:p.Lys2039Ter | |
| XM_006718561.2:c.6118A>T | XP_006718624.1:p.Lys2040Ter | |
| XM_011545044.1:c.6232A>T | XP_011543346.1:p.Lys2078Ter | |
| XM_011545045.1:c.6226A>T | XP_011543347.1:p.Lys2076Ter | |
| XM_011545046.1:c.6199A>T | XP_011543348.1:p.Lys2067Ter | |
| XM_011545047.1:c.6136A>T | XP_011543349.1:p.Lys2046Ter | |
| XM_011545048.1:c.6007A>T | XP_011543350.1:p.Lys2003Ter | |
| XM_011545049.1:c.5995A>T | XP_011543351.1:p.Lys1999Ter | |
| XM_011545050.1:c.5968A>T | XP_011543352.1:p.Lys1990Ter | |
| XM_011545051.1:c.6232A>T | XP_011543353.1:p.Lys2078Ter | |
| XR_949938.1:n.6552A>T | ||
| XR_949941.1:n.6526A>T | ||
| XM_011545044.2:c.6232A>T | XP_011543346.1:p.Lys2078Ter | |
| XM_011545046.2:c.6322A>T | XP_011543348.2:p.Lys2108Ter | |
| XM_011545050.2:c.5968A>T | XP_011543352.1:p.Lys1990Ter | |
| XM_017017778.1:c.6316A>T | XP_016873267.1:p.Lys2106Ter | |
| XM_017017779.1:c.6313A>T | XP_016873268.1:p.Lys2105Ter | |
| XM_017017780.1:c.6322A>T | XP_016873269.1:p.Lys2108Ter | |
| XM_017017781.1:c.6226A>T | XP_016873270.1:p.Lys2076Ter | |
| XM_017017782.1:c.6208A>T | XP_016873271.1:p.Lys2070Ter | |
| XM_017017783.1:c.6205A>T | XP_016873272.1:p.Lys2069Ter | |
| XM_017017784.1:c.6205A>T | XP_016873273.1:p.Lys2069Ter | |
| XM_017017785.1:c.6085A>T | XP_016873274.1:p.Lys2029Ter | |
| XM_017017786.1:c.6322A>T | XP_016873275.1:p.Lys2108Ter | |
| XM_017017788.1:c.6208A>T | XP_016873277.1:p.Lys2070Ter | |
| XR_001747885.1:n.6311A>T | ||
| XR_001747887.1:n.6297A>T | ||
| NM_000260.4:c.6232A>T MANE Select | NP_000251.3:p.Lys2078Ter | |
| NM_001127180.2:c.6118A>T | NP_001120652.1:p.Lys2040Ter | |
| NM_001369365.1:c.6085A>T | NP_001356294.1:p.Lys2029Ter |