Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996744C= , CM000665.2:g.164996744C= | GRCh38 |
| NC_000003.11:g.164714532C= , CM000665.1:g.164714532C= | GRCh37 |
| NC_000003.10:g.166197226C= | NCBI36 |
| NG_017043.1:g.86752G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.4569G= MANE Select | NP_001032.2:p.Met1523= |
| ENST00000264382.8:c.4569G= MANE Select | ENSP00000264382.3:p.Met1523= |
| NM_001041.3:c.4569G= | NP_001032.2:p.Met1523= |
| ENST00000264382.7:c.4569G= | ENSP00000264382.3:p.Met1523= |
| XM_011513078.1:c.4470G= | XP_011511380.1:p.Met1490= |
| XM_011513078.2:c.4470G= | XP_011511380.1:p.Met1490= |