Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96890803A>T , CM000668.2:g.96890803A>T | GRCh38 |
| NC_000006.11:g.97338679A>T , CM000668.1:g.97338679A>T | GRCh37 |
| NC_000006.10:g.97445400A>T | NCBI36 |
| NG_013379.1:g.12089T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.*301T>A MANE Select | ENSP00000358272.4:n.*301T>A | |
| ENST00000316149.7:c.*301T>A | ENSP00000358272.4:n.*301T>A | |
| NM_014165.3:c.*301T>A | NP_054884.1:n.*301T>A | |
| NM_014165.4:c.*301T>A MANE Select | NP_054884.1:n.*301T>A |