Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75922068A>T , CM000668.2:g.75922068A>T | GRCh38 |
| NC_000006.11:g.76631785A>T , CM000668.1:g.76631785A>T | GRCh37 |
| NC_000006.10:g.76688505A>T | NCBI36 |
| NG_041812.1:g.155611T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001563.4:c.*21T>A MANE Select | NP_001554.2:n.*21T>A |
| ENST00000369950.8:c.*21T>A MANE Select | ENSP00000358966.3:n.*21T>A |
| NM_001282368.1:c.*21T>A | NP_001269297.1:n.*21T>A |
| NM_001282368.2:c.*21T>A | NP_001269297.1:n.*21T>A |
| NM_001563.3:c.*21T>A | NP_001554.2:n.*21T>A |
| ENST00000369950.7:c.*21T>A | ENSP00000358966.3:n.*21T>A |
| ENST00000369952.3:c.498T>A | ENSP00000358968.3:n.498T>A |
| ENST00000611179.4:c.*21T>A | ENSP00000481913.1:n.*21T>A |