Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963153A>T , CM000666.2:g.42963153A>T | GRCh38 |
| NC_000004.11:g.42965170A>T , CM000666.1:g.42965170A>T | GRCh37 |
| NC_000004.10:g.42659927A>T | NCBI36 |
| NG_027718.1:g.74888A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.627+19A>T MANE Select | NP_001073945.1:n.627+19A>T |
| ENST00000399770.3:c.627+19A>T MANE Select | ENSP00000382670.2:n.627+19A>T |
| NM_001080476.2:c.627+19A>T | NP_001073945.1:n.627+19A>T |
| ENST00000399770.2:c.627+19A>T | ENSP00000382670.2:n.627+19A>T |
| XM_011513691.1:c.264+19A>T | XP_011511993.1:n.264+19A>T |