Linked Data
ClinVar Variation Id:
9448
ClinVar RCV Id:
RCV000010055
dbSNP Id:
rs121434623
PubMed:
PMID:7509295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.77571160A>G , CM000669.2:g.77571160A>G | GRCh38 |
| NC_000007.13:g.77200477A>G , CM000669.1:g.77200477A>G | GRCh37 |
| NC_000007.12:g.77038413A>G | NCBI36 |
| NG_008394.1:g.38705A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248594.11:c.182A>G MANE Select | ENSP00000248594.6:p.Lys61Arg | |
| ENST00000248594.10:c.182A>G | ENSP00000248594.6:p.Lys61Arg | |
| ENST00000415482.6:c.-176A>G | ENSP00000392429.2:n.-176A>G | |
| ENST00000418110.5:c.-176A>G | ENSP00000392526.1:n.-176A>G | |
| ENST00000433369.6:c.-176A>G | ENSP00000404050.1:n.-176A>G | |
| ENST00000435495.6:c.-113A>G | ENSP00000397991.2:n.-113A>G | |
| ENST00000440186.5:c.-99A>G | ENSP00000413449.1:n.-99A>G | |
| ENST00000460731.5:n.212A>G | ||
| ENST00000522115.6:c.70A>G | ||
| ENST00000523952.5:c.435A>G | ||
| NM_001131008.1:c.-176A>G | NP_001124480.1:n.-176A>G | |
| NM_001131009.1:c.-113A>G | NP_001124481.1:n.-113A>G | |
| NM_002835.3:c.182A>G | NP_002826.3:p.Lys61Arg | |
| XM_005250518.1:c.10A>G | XP_005250575.1:p.Arg4Gly | |
| XM_006716073.2:c.182A>G | XP_006716136.1:p.Lys61Arg | |
| XM_011516444.1:c.-315A>G | XP_011514746.1:n.-315A>G | |
| XM_005250518.2:c.10A>G | XP_005250575.1:p.Arg4Gly | |
| XM_006716073.4:c.182A>G | XP_006716136.1:p.Lys61Arg | |
| XM_017012474.2:c.10A>G | XP_016867963.1:p.Arg4Gly | |
| XR_001744844.2:n.539A>G | ||
| NM_002835.4:c.182A>G MANE Select | NP_002826.3:p.Lys61Arg | |
| NM_001131008.2:c.-176A>G | NP_001124480.1:n.-176A>G | |
| NM_001131009.2:c.-113A>G | NP_001124481.1:n.-113A>G |