Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413577A>C , CM000665.2:g.147413577A>C | GRCh38 |
| NC_000003.11:g.147131364A>C , CM000665.1:g.147131364A>C | GRCh37 |
| NC_000003.10:g.148614054A>C | NCBI36 |
| NG_015886.1:g.9184A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.*26A>C MANE Select | ENSP00000282928.4:n.*26A>C | |
| ENST00000282928.4:c.*26A>C | ENSP00000282928.4:n.*26A>C | |
| ENST00000472523.1:n.521+19635A>C | ||
| ENST00000488404.5:c.436A>C | ||
| NM_003412.3:c.*26A>C | NP_003403.2:n.*26A>C | |
| NM_003412.4:c.*26A>C MANE Select | NP_003403.2:n.*26A>C |