Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43020345C= , CM000666.2:g.43020345C= | GRCh38 |
| NC_000004.11:g.43022362C= , CM000666.1:g.43022362C= | GRCh37 |
| NC_000004.10:g.42717119C= | NCBI36 |
| NG_027718.1:g.132080C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.628-9C= MANE Select | ENSP00000382670.2:n.628-9C= | |
| ENST00000399770.2:c.628-9C= | ENSP00000382670.2:n.628-9C= | |
| NM_001080476.2:c.628-9C= | NP_001073945.1:n.628-9C= | |
| XM_011513691.1:c.265-9C= | XP_011511993.1:n.265-9C= | |
| NM_001080476.3:c.628-9C= MANE Select | NP_001073945.1:n.628-9C= |