Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160243653G>T , CM000668.2:g.160243653G>T | GRCh38 |
| NC_000006.11:g.160664685G>T , CM000668.1:g.160664685G>T | GRCh37 |
| NC_000006.10:g.160584675G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003058.4:c.1198C>A MANE Select | NP_003049.2:p.Arg400Ser |
| ENST00000366953.8:c.1198C>A MANE Select | ENSP00000355920.3:p.Arg400Ser |
| NM_003058.3:c.1198C>A | NP_003049.2:p.Arg400Ser |
| ENST00000366953.7:c.1198C>A | ENSP00000355920.3:p.Arg400Ser |
| ENST00000486916.5:n.237C>A | |
| ENST00000491092.1:n.1095C>A |