Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354615T>A , CM000666.2:g.40354615T>A | GRCh38 |
| NC_000004.11:g.40356632T>A , CM000666.1:g.40356632T>A | GRCh37 |
| NC_000004.10:g.40051389T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.*95T>A MANE Select | ENSP00000312663.2:n.*95T>A | |
| ENST00000310169.2:c.*95T>A | ENSP00000312663.2:n.*95T>A | |
| NM_017581.3:c.*95T>A | NP_060051.2:n.*95T>A | |
| NM_017581.4:c.*95T>A MANE Select | NP_060051.2:n.*95T>A |