Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888396A>C , CM000684.2:g.20888396A>C | GRCh38 |
| NC_000022.10:g.21242684A>C , CM000684.1:g.21242684A>C | GRCh37 |
| NC_000022.9:g.19572684A>C | NCBI36 |
| NG_012152.1:g.34393A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*560A>C MANE Select | ENSP00000215730.6:n.*560A>C | |
| ENST00000215730.11:c.*560A>C | ENSP00000215730.6:n.*560A>C | |
| NM_004782.3:c.*560A>C | NP_004773.1:n.*560A>C | |
| NM_004782.4:c.*560A>C MANE Select | NP_004773.1:n.*560A>C |