Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320498T>G , CM000666.2:g.119320498T>G | GRCh38 |
| NC_000004.11:g.120241653T>G , CM000666.1:g.120241653T>G | GRCh37 |
| NC_000004.10:g.120461101T>G | NCBI36 |
| NG_011444.1:g.6664A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+172A>C MANE Select | ENSP00000274024.3:n.240+172A>C | |
| ENST00000274024.3:c.240+172A>C | ENSP00000274024.3:n.240+172A>C | |
| NM_000134.3:c.240+172A>C | NP_000125.2:n.240+172A>C | |
| NM_000134.4:c.240+172A>C MANE Select | NP_000125.2:n.240+172A>C |