Linked Data
ClinVar Variation Id:
140608
ClinVar RCV Id:
RCV000149519
dbSNP Id:
rs690016537
PubMed:
PMID:25305078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70300842G>A , CM000664.2:g.70300842G>A | GRCh38 |
| NC_000002.11:g.70527974G>A , CM000664.1:g.70527974G>A | GRCh37 |
| NC_000002.10:g.70381478G>A | NCBI36 |
| NG_051290.1:g.6247C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711613.1:c.*104C>T | ENSP00000518809.1:n.*104C>T | |
| ENST00000037869.8:c.226C>T | ENSP00000037869.3:p.Gln76Ter | |
| ENST00000430566.6:c.547C>T MANE Select | ENSP00000397269.1:p.Gln183Ter | |
| ENST00000037869.7:c.226C>T | ENSP00000037869.3:p.Gln76Ter | |
| ENST00000430566.5:c.547C>T | ENSP00000397269.1:p.Gln183Ter | |
| ENST00000438759.1:c.436C>T | ENSP00000390840.1:p.Gln146Ter | |
| ENST00000450256.1:c.*104C>T | ENSP00000391468.1:n.*104C>T | |
| ENST00000460307.1:n.894C>T | ||
| ENST00000498665.1:n.227C>T | ||
| NM_032822.2:c.226C>T | NP_116211.2:p.Gln76Ter | |
| XM_005264620.1:c.133C>T | XP_005264677.1:p.Gln45Ter | |
| NM_001329752.1:c.547C>T | NP_001316681.1:p.Gln183Ter | |
| NM_001329753.1:c.481C>T | NP_001316682.1:p.Gln161Ter | |
| NM_001329755.1:c.133C>T | NP_001316684.1:p.Gln45Ter | |
| NM_001329757.1:c.133C>T | NP_001316686.1:p.Gln45Ter | |
| NM_001329758.1:c.133C>T | NP_001316687.1:p.Gln45Ter | |
| NM_001329752.2:c.547C>T MANE Select | NP_001316681.1:p.Gln183Ter | |
| NM_001329753.2:c.481C>T | NP_001316682.1:p.Gln161Ter | |
| NM_001329755.2:c.133C>T | NP_001316684.1:p.Gln45Ter | |
| NM_001329757.2:c.133C>T | NP_001316686.1:p.Gln45Ter | |
| NM_001329758.2:c.133C>T | NP_001316687.1:p.Gln45Ter | |
| NM_032822.3:c.226C>T | NP_116211.2:p.Gln76Ter |