Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962821A>C , CM000666.2:g.42962821A>C | GRCh38 |
| NC_000004.11:g.42964838A>C , CM000666.1:g.42964838A>C | GRCh37 |
| NC_000004.10:g.42659595A>C | NCBI36 |
| NG_027718.1:g.74556A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.385-71A>C MANE Select | ENSP00000382670.2:n.385-71A>C | |
| ENST00000399770.2:c.385-71A>C | ENSP00000382670.2:n.385-71A>C | |
| NM_001080476.2:c.385-71A>C | NP_001073945.1:n.385-71A>C | |
| XM_011513691.1:c.22-71A>C | XP_011511993.1:n.22-71A>C | |
| NM_001080476.3:c.385-71A>C MANE Select | NP_001073945.1:n.385-71A>C |