Linked Data
dbSNP Id:
rs779082639
ExAC:
4:69512877 C / G
gnomAD v2:
4-69512877-C-G
gnomAD v4:
4-68647159-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647159C>G , CM000666.2:g.68647159C>G | GRCh38 |
| NC_000004.11:g.69512877C>G , CM000666.1:g.69512877C>G | GRCh37 |
| NC_000004.10:g.69195472C>G | NCBI36 |
| NG_052676.1:g.28618G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1538G>C MANE Select | ENSP00000341045.5:p.Cys513Ser | |
| ENST00000338206.5:c.1538G>C | ENSP00000341045.5:p.Cys513Ser | |
| ENST00000616841.4:c.1538G>C | ENSP00000482004.1:p.Cys513Ser | |
| NM_001076.3:c.1538G>C | NP_001067.2:p.Cys513Ser | |
| NM_001076.4:c.1538G>C MANE Select | NP_001067.2:p.Cys513Ser |