Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213491A= , CM000667.2:g.1213491A= | GRCh38 |
| NC_000005.9:g.1213606A= , CM000667.1:g.1213606A= | GRCh37 |
| NC_000005.8:g.1266606A= | NCBI36 |
| NG_008282.1:g.16897A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.692A= MANE Select | ENSP00000305302.10:p.Tyr231= | |
| ENST00000304460.10:c.692A= | ENSP00000305302.10:p.Tyr231= | |
| ENST00000515652.5:c.600A= | ENSP00000425701.1:p.Leu200= | |
| NM_001003841.2:c.692A= | NP_001003841.1:p.Tyr231= | |
| NM_001003841.3:c.692A= MANE Select | NP_001003841.1:p.Tyr231= |