Linked Data
ClinVar Variation Id:
7701
ClinVar RCV Id:
RCV000008140
dbSNP Id:
rs61752116
COSMIC:
COSM3470581
PubMed:
PMID:15146459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10624405C>T , CM000663.2:g.10624405C>T | GRCh38 |
| NC_000001.10:g.10684462C>T , CM000663.1:g.10684462C>T | GRCh37 |
| NC_000001.9:g.10607049C>T | NCBI36 |
| NG_008340.1:g.154460C>T | |
| NG_008340.2:g.154460C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356607.9:c.553C>T MANE Select | ENSP00000349016.4:p.Gln185Ter | |
| ENST00000356607.8:c.553C>T | ENSP00000349016.4:p.Gln185Ter | |
| NM_004565.2:c.553C>T | NP_004556.1:p.Gln185Ter | |
| XM_005263470.3:c.361C>T | XP_005263527.1:p.Gln121Ter | |
| XM_011541577.1:c.595C>T | XP_011539879.1:p.Gln199Ter | |
| XM_011541578.1:c.496C>T | XP_011539880.1:p.Gln166Ter | |
| XM_011541579.1:c.466C>T | XP_011539881.1:p.Gln156Ter | |
| XM_011541580.1:c.424C>T | XP_011539882.1:p.Gln142Ter | |
| XM_005263470.5:c.361C>T | XP_005263527.1:p.Gln121Ter | |
| XM_011541577.2:c.595C>T | XP_011539879.1:p.Gln199Ter | |
| XM_011541578.2:c.496C>T | XP_011539880.1:p.Gln166Ter | |
| XM_011541579.3:c.466C>T | XP_011539881.1:p.Gln156Ter | |
| XM_024447651.1:c.361C>T | XP_024303419.1:p.Gln121Ter | |
| NM_004565.3:c.553C>T MANE Select | NP_004556.1:p.Gln185Ter |