Linked Data
ClinVar Variation Id:
101519
ClinVar RCV Id:
RCV000087752
dbSNP Id:
rs879255244
PubMed:
PMID:24360809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.24343026G>T , CM000663.2:g.24343026G>T | GRCh38 |
| NC_000001.10:g.24669516G>T , CM000663.1:g.24669516G>T | GRCh37 |
| NC_000001.9:g.24542103G>T | NCBI36 |
| NG_009308.1:g.28636G>T | |
| NG_009308.2:g.28636G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461318.2:c.1420G>T | ENSP00000508789.1:p.Val474Leu | |
| ENST00000524724.6:c.1281+1G>T | ENSP00000431290.2:n.1281+1G>T | |
| ENST00000528064.6:c.1140+1G>T | ENSP00000435130.2:n.1140+1G>T | |
| ENST00000689444.1:c.1281+1G>T | ENSP00000509040.1:n.1281+1G>T | |
| ENST00000690803.1:c.1140+1G>T | ENSP00000510783.1:n.1140+1G>T | |
| ENST00000692334.1:c.1140+1G>T | ENSP00000509790.1:n.1140+1G>T | |
| ENST00000361548.9:c.1419+1G>T MANE Select | ENSP00000354943.5:n.1419+1G>T | |
| ENST00000236255.4:c.1434+1G>T | ENSP00000236255.4:n.1434+1G>T | |
| ENST00000350501.9:c.1419+1G>T | ENSP00000288955.5:n.1419+1G>T | |
| ENST00000356046.6:c.1281+1G>T | ENSP00000348333.2:n.1281+1G>T | |
| ENST00000361548.8:c.1419+1G>T | ENSP00000354943.4:n.1419+1G>T | |
| ENST00000461318.1:n.328G>T | ||
| ENST00000528064.5:c.*1088+1G>T | ENSP00000435130.1:n.*1088+1G>T | |
| NM_001195010.1:c.1281+1G>T | NP_001181939.1:n.1281+1G>T | |
| NM_021180.3:c.1434+1G>T | NP_067003.2:n.1434+1G>T | |
| NM_198173.2:c.1419+1G>T | NP_937816.1:n.1419+1G>T | |
| NM_198174.2:c.1419+1G>T | NP_937817.3:n.1419+1G>T | |
| XM_011541869.1:c.1281+1G>T | XP_011540171.1:n.1281+1G>T | |
| XM_011541870.1:c.1140+1G>T | XP_011540172.1:n.1140+1G>T | |
| XM_011541870.2:c.1140+1G>T | XP_011540172.1:n.1140+1G>T | |
| NM_001195010.2:c.1281+1G>T | NP_001181939.1:n.1281+1G>T | |
| NM_198173.3:c.1419+1G>T MANE Select | NP_937816.1:n.1419+1G>T | |
| NM_198174.3:c.1419+1G>T | NP_937817.3:n.1419+1G>T | |
| NM_021180.4:c.1434+1G>T | NP_067003.2:n.1434+1G>T |