Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143459085G>T , CM000668.2:g.143459085G>T | GRCh38 |
| NC_000006.11:g.143780222G>T , CM000668.1:g.143780222G>T | GRCh37 |
| NC_000006.10:g.143821915G>T | NCBI36 |
| NG_008459.1:g.13305G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.74G>T MANE Select | NP_003621.1:p.Gly25Val |
| ENST00000367591.5:c.74G>T MANE Select | ENSP00000356563.4:p.Gly25Val |
| NM_003630.2:c.74G>T | NP_003621.1:p.Gly25Val |
| ENST00000367591.4:c.74G>T | ENSP00000356563.4:p.Gly25Val |
| ENST00000367592.5:c.74-3831G>T | ENSP00000356564.1:n.74-3831G>T |