Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143459155C>A , CM000668.2:g.143459155C>A | GRCh38 |
| NC_000006.11:g.143780292C>A , CM000668.1:g.143780292C>A | GRCh37 |
| NC_000006.10:g.143821985C>A | NCBI36 |
| NG_008459.1:g.13375C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.144C>A MANE Select | NP_003621.1:p.Tyr48Ter |
| ENST00000367591.5:c.144C>A MANE Select | ENSP00000356563.4:p.Tyr48Ter |
| NM_003630.2:c.144C>A | NP_003621.1:p.Tyr48Ter |
| ENST00000367591.4:c.144C>A | ENSP00000356563.4:p.Tyr48Ter |
| ENST00000367592.5:c.74-3761C>A | ENSP00000356564.1:n.74-3761C>A |