Linked Data
ClinVar Variation Id:
4417
ClinVar RCV Id:
RCV000004667
dbSNP Id:
rs121908139
gnomAD v4:
2-201744285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201744285G>A , CM000664.2:g.201744285G>A | GRCh38 |
| NC_000002.11:g.202609008G>A , CM000664.1:g.202609008G>A | GRCh37 |
| NC_000002.10:g.202317253G>A | NCBI36 |
| NG_008775.1:g.41888C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264276.11:c.2143C>T MANE Select | ENSP00000264276.6:p.Gln715Ter | |
| ENST00000482789.6:n.2485C>T | ||
| ENST00000482891.6:n.2485C>T | ||
| ENST00000679416.1:n.2485C>T | ||
| ENST00000679435.1:c.2143C>T | ENSP00000505218.1:p.Gln715Ter | |
| ENST00000679516.1:c.2143C>T | ENSP00000505187.1:p.Gln715Ter | |
| ENST00000679549.1:n.1372C>T | ||
| ENST00000679550.1:c.2143C>T | ENSP00000506193.1:p.Gln715Ter | |
| ENST00000679618.1:c.2143C>T | ENSP00000506274.1:p.Gln715Ter | |
| ENST00000679630.1:n.2485C>T | ||
| ENST00000679686.1:n.2257C>T | ||
| ENST00000679701.1:n.2485C>T | ||
| ENST00000679916.1:c.2143C>T | ENSP00000506172.1:p.Gln715Ter | |
| ENST00000679939.1:c.2143C>T | ENSP00000505704.1:p.Gln715Ter | |
| ENST00000679949.1:c.2095C>T | ENSP00000505232.1:p.Gln699Ter | |
| ENST00000680000.1:c.2143C>T | ENSP00000506173.1:p.Gln715Ter | |
| ENST00000680135.1:c.*107C>T | ENSP00000506211.1:n.*107C>T | |
| ENST00000680149.1:c.2143C>T | ENSP00000506497.1:p.Gln715Ter | |
| ENST00000680163.1:c.2143C>T | ENSP00000505092.1:p.Gln715Ter | |
| ENST00000680174.1:n.2423C>T | ||
| ENST00000680236.1:c.2143C>T | ENSP00000506212.1:p.Gln715Ter | |
| ENST00000680287.1:c.2143C>T | ENSP00000506547.1:p.Gln715Ter | |
| ENST00000680497.1:c.2245C>T | ENSP00000505954.1:p.Gln749Ter | |
| ENST00000680508.1:c.2143C>T | ENSP00000505749.1:p.Gln715Ter | |
| ENST00000680569.1:c.2143C>T | ENSP00000505522.1:p.Gln715Ter | |
| ENST00000680630.1:n.2485C>T | ||
| ENST00000680644.1:c.*654C>T | ENSP00000505738.1:n.*654C>T | |
| ENST00000680726.1:c.2143C>T | ENSP00000505505.1:p.Gln715Ter | |
| ENST00000680737.1:n.2485C>T | ||
| ENST00000680759.1:c.2143C>T | ENSP00000505848.1:p.Gln715Ter | |
| ENST00000680814.1:c.2143C>T | ENSP00000505710.1:p.Gln715Ter | |
| ENST00000680828.1:c.2143C>T | ENSP00000505249.1:p.Gln715Ter | |
| ENST00000680861.1:c.2143C>T | ENSP00000505043.1:p.Gln715Ter | |
| ENST00000680927.1:c.2143C>T | ENSP00000505473.1:p.Gln715Ter | |
| ENST00000680939.1:n.2485C>T | ||
| ENST00000681152.1:c.2143C>T | ENSP00000505388.1:p.Gln715Ter | |
| ENST00000681250.1:c.1471+13117C>T | ENSP00000505684.1:n.1471+13117C>T | |
| ENST00000681256.1:c.1998+2281C>T | ENSP00000505446.1:n.1998+2281C>T | |
| ENST00000681279.1:n.2485C>T | ||
| ENST00000681303.1:c.2143C>T | ENSP00000505576.1:p.Gln715Ter | |
| ENST00000681307.1:n.2485C>T | ||
| ENST00000681461.1:n.2485C>T | ||
| ENST00000681619.1:c.2143C>T | ENSP00000505071.1:p.Gln715Ter | |
| ENST00000681716.1:c.2143C>T | ENSP00000505078.1:p.Gln715Ter | |
| ENST00000681758.1:n.2485C>T | ||
| ENST00000681768.1:c.2143C>T | ENSP00000506311.1:p.Gln715Ter | |
| ENST00000681808.1:c.2143C>T | ENSP00000505219.1:p.Gln715Ter | |
| ENST00000264276.10:c.2143C>T | ENSP00000264276.6:p.Gln715Ter | |
| ENST00000439495.5:c.104C>T | ||
| ENST00000482789.5:n.2283C>T | ||
| ENST00000482891.5:n.2283C>T | ||
| NM_020919.3:c.2143C>T | NP_065970.2:p.Gln715Ter | |
| XM_005246709.2:c.2143C>T | XP_005246766.1:p.Gln715Ter | |
| XM_006712654.1:c.2143C>T | XP_006712717.1:p.Gln715Ter | |
| XM_006712655.2:c.79C>T | XP_006712718.1:p.Gln27Ter | |
| XM_011511530.1:c.1804C>T | XP_011509832.1:p.Gln602Ter | |
| XM_011511531.1:c.2143C>T | XP_011509833.1:p.Gln715Ter | |
| XR_922974.1:n.2278C>T | ||
| XM_006712654.3:c.2143C>T | XP_006712717.1:p.Gln715Ter | |
| XM_006712655.3:c.79C>T | XP_006712718.1:p.Gln27Ter | |
| XM_017004569.2:c.2143C>T | XP_016860058.1:p.Gln715Ter | |
| XM_017004570.2:c.2143C>T | XP_016860059.1:p.Gln715Ter | |
| XM_017004572.2:c.-343C>T | XP_016860061.1:n.-343C>T | |
| XM_024453024.1:c.1804C>T | XP_024308792.1:p.Gln602Ter | |
| XM_024453025.1:c.79C>T | XP_024308793.1:p.Gln27Ter | |
| XR_001738864.2:n.2278C>T | ||
| XR_001738865.2:n.2278C>T | ||
| XR_001738866.2:n.2278C>T | ||
| XR_001738867.2:n.2278C>T | ||
| XR_002959320.1:n.1334C>T | ||
| NM_020919.4:c.2143C>T MANE Select | NP_065970.2:p.Gln715Ter |