ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232480203A>G , CM000664.2:g.232480203A>G | GRCh38 |
| NC_000002.11:g.233344913A>G , CM000664.1:g.233344913A>G | GRCh37 |
| NC_000002.10:g.233053157A>G | NCBI36 |
| NG_034065.1:g.12657T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.2278T>C MANE Select | ENSP00000302051.1:p.Cys760Arg | |
| ENST00000304546.5:c.2278T>C | ENSP00000302051.1:p.Cys760Arg | |
| ENST00000409941.1:c.2272T>C | ENSP00000386333.1:p.Cys758Arg | |
| ENST00000411860.5:c.457T>C | ENSP00000412683.1:p.Cys153Arg | |
| ENST00000482346.1:n.2589T>C | ||
| NM_001290787.1:c.2272T>C | NP_001277716.1:p.Cys758Arg | |
| NM_004826.3:c.2278T>C | NP_004817.2:p.Cys760Arg | |
| NM_004826.4:c.2278T>C MANE Select | NP_004817.2:p.Cys760Arg | |
| NM_001290787.2:c.2272T>C | NP_001277716.1:p.Cys758Arg |