Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320454C>T , CM000666.2:g.119320454C>T | GRCh38 |
| NC_000004.11:g.120241609C>T , CM000666.1:g.120241609C>T | GRCh37 |
| NC_000004.10:g.120461057C>T | NCBI36 |
| NG_011444.1:g.6708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+216G>A MANE Select | ENSP00000274024.3:n.240+216G>A | |
| ENST00000274024.3:c.240+216G>A | ENSP00000274024.3:n.240+216G>A | |
| NM_000134.3:c.240+216G>A | NP_000125.2:n.240+216G>A | |
| NM_000134.4:c.240+216G>A MANE Select | NP_000125.2:n.240+216G>A |