Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55089802C>T , CM000666.2:g.55089802C>T | GRCh38 |
| NC_000004.11:g.55955969C>T , CM000666.1:g.55955969C>T | GRCh37 |
| NC_000004.10:g.55650726C>T | NCBI36 |
| NG_012004.1:g.40794G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.3193G>A MANE Select | NP_002244.1:p.Ala1065Thr |
| ENST00000263923.5:c.3193G>A MANE Select | ENSP00000263923.4:p.Ala1065Thr |
| NM_002253.2:c.3193G>A | NP_002244.1:p.Ala1065Thr |
| NM_002253.3:c.3193G>A | NP_002244.1:p.Ala1065Thr |
| ENST00000263923.4:c.3193G>A | ENSP00000263923.4:p.Ala1065Thr |
| ENST00000647068.1:n.3206G>A |