Linked Data
ClinVar Variation Id:
140577
ClinVar RCV Id:
RCV000128794
dbSNP Id:
rs587777547
PubMed:
PMID:24292712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46993514C>T , CM000664.2:g.46993514C>T | GRCh38 |
| NC_000002.11:g.47220653C>T , CM000664.1:g.47220653C>T | GRCh37 |
| NC_000002.10:g.47074157C>T | NCBI36 |
| NG_034143.1:g.82386C>T | |
| NG_034143.2:g.82386C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.1834C>T | ||
| ENST00000319190.11:c.829C>T MANE Select | ENSP00000316699.5:p.Gln277Ter | |
| ENST00000319190.9:c.829C>T | ENSP00000316699.5:p.Gln277Ter | |
| ENST00000394850.6:c.829C>T | ENSP00000378320.2:p.Gln277Ter | |
| ENST00000409245.5:c.727C>T | ENSP00000386307.1:p.Gln243Ter | |
| ENST00000409825.5:c.777C>T | ||
| ENST00000441914.5:c.828C>T | ||
| ENST00000461601.5:n.1154C>T | ||
| ENST00000474321.6:n.313C>T | ||
| ENST00000491786.5:n.233C>T | ||
| NM_001288951.1:c.829C>T | NP_001275880.1:p.Gln277Ter | |
| NM_001288953.1:c.727C>T | NP_001275882.1:p.Gln243Ter | |
| NM_001288955.1:c.-76C>T | NP_001275884.1:n.-76C>T | |
| NM_020458.3:c.829C>T | NP_065191.2:p.Gln277Ter | |
| XM_005264439.2:c.472C>T | XP_005264496.1:p.Gln158Ter | |
| XM_011532998.1:c.472C>T | XP_011531300.1:p.Gln158Ter | |
| XM_011532999.1:c.829C>T | XP_011531301.1:p.Gln277Ter | |
| XM_011533000.1:c.49C>T | XP_011531302.1:p.Gln17Ter | |
| XR_939696.1:n.1134C>T | ||
| XM_005264439.4:c.472C>T | XP_005264496.1:p.Gln158Ter | |
| XM_011532998.3:c.472C>T | XP_011531300.1:p.Gln158Ter | |
| XM_011532999.2:c.829C>T | XP_011531301.1:p.Gln277Ter | |
| XM_011533000.3:c.49C>T | XP_011531302.1:p.Gln17Ter | |
| XM_017004524.1:c.829C>T | XP_016860013.1:p.Gln277Ter | |
| XM_017004525.1:c.661C>T | XP_016860014.1:p.Gln221Ter | |
| XM_017004526.1:c.829C>T | XP_016860015.1:p.Gln277Ter | |
| XM_017004529.1:c.829C>T | XP_016860018.1:p.Gln277Ter | |
| XR_001738853.2:n.1141C>T | ||
| XR_001738854.1:n.1140C>T | ||
| NM_020458.4:c.829C>T MANE Select | NP_065191.2:p.Gln277Ter | |
| NM_001288951.2:c.829C>T | NP_001275880.1:p.Gln277Ter | |
| NM_001288953.2:c.727C>T | NP_001275882.1:p.Gln243Ter | |
| NM_001288955.2:c.-76C>T | NP_001275884.1:n.-76C>T |