Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55102013T>A , CM000666.2:g.55102013T>A | GRCh38 |
| NC_000004.11:g.55968180T>A , CM000666.1:g.55968180T>A | GRCh37 |
| NC_000004.10:g.55662937T>A | NCBI36 |
| NG_012004.1:g.28583A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.2150A>T MANE Select | NP_002244.1:p.Asp717Val |
| ENST00000263923.5:c.2150A>T MANE Select | ENSP00000263923.4:p.Asp717Val |
| NM_002253.2:c.2150A>T | NP_002244.1:p.Asp717Val |
| NM_002253.3:c.2150A>T | NP_002244.1:p.Asp717Val |
| ENST00000263923.4:c.2150A>T | ENSP00000263923.4:p.Asp717Val |
| ENST00000647068.1:n.2163A>T |