Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413396G>C , CM000665.2:g.147413396G>C | GRCh38 |
| NC_000003.11:g.147131183G>C , CM000665.1:g.147131183G>C | GRCh37 |
| NC_000003.10:g.148613873G>C | NCBI36 |
| NG_015886.1:g.9003G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1189G>C MANE Select | ENSP00000282928.4:p.Ala397Pro | |
| ENST00000282928.4:c.1189G>C | ENSP00000282928.4:p.Ala397Pro | |
| ENST00000472523.1:n.521+19454G>C | ||
| ENST00000488404.5:c.255G>C | ||
| NM_003412.3:c.1189G>C | NP_003403.2:p.Ala397Pro | |
| NM_003412.4:c.1189G>C MANE Select | NP_003403.2:p.Ala397Pro |