Linked Data
ClinVar Variation Id:
9922
ClinVar RCV Id:
RCV000010600
dbSNP Id:
rs104894952
PubMed:
PMID:16909393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119583178C>T , CM000685.2:g.119583178C>T | GRCh38 |
| NC_000023.10:g.118717141C>T , CM000685.1:g.118717141C>T | GRCh37 |
| NC_000023.9:g.118601169C>T | NCBI36 |
| NG_009267.1:g.13643C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696533.1:c.598C>T | ENSP00000512694.1:p.Gln200Ter | |
| ENST00000696534.1:c.382C>T | ENSP00000512695.1:p.Gln128Ter | |
| ENST00000696539.1:c.598C>T | ENSP00000512700.1:p.Gln200Ter | |
| ENST00000371558.7:c.382C>T MANE Select | ENSP00000360613.2:p.Gln128Ter | |
| ENST00000346330.6:c.373C>T | ENSP00000335027.4:p.Gln125Ter | |
| ENST00000371558.6:c.382C>T | ENSP00000360613.2:p.Gln128Ter | |
| ENST00000371569.6:n.1403C>T | ||
| ENST00000625938.2:c.292C>T | ENSP00000486599.1:p.Gln98Ter | |
| ENST00000628549.1:c.283C>T | ENSP00000487203.1:p.Gln95Ter | |
| ENST00000628734.1:n.361C>T | ||
| ENST00000630695.2:c.157C>T | ENSP00000486550.1:p.Gln53Ter | |
| ENST00000631185.2:c.330+502C>T | ENSP00000486153.1:n.330+502C>T | |
| NM_001282161.1:c.283C>T | NP_001269090.1:p.Gln95Ter | |
| NM_003336.3:c.382C>T | NP_003327.2:p.Gln128Ter | |
| NM_181762.2:c.292C>T | NP_861427.1:p.Gln98Ter | |
| NM_003336.4:c.382C>T MANE Select | NP_003327.2:p.Gln128Ter | |
| NM_001282161.2:c.283C>T | NP_001269090.1:p.Gln95Ter | |
| NM_181762.3:c.292C>T | NP_861427.1:p.Gln98Ter |