Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413241T>C , CM000665.2:g.147413241T>C | GRCh38 |
| NC_000003.11:g.147131028T>C , CM000665.1:g.147131028T>C | GRCh37 |
| NC_000003.10:g.148613718T>C | NCBI36 |
| NG_015886.1:g.8848T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1147-113T>C MANE Select | ENSP00000282928.4:n.1147-113T>C | |
| ENST00000282928.4:c.1147-113T>C | ENSP00000282928.4:n.1147-113T>C | |
| ENST00000472523.1:n.521+19299T>C | ||
| ENST00000488404.5:c.213-113T>C | ||
| NM_003412.3:c.1147-113T>C | NP_003403.2:n.1147-113T>C | |
| NM_003412.4:c.1147-113T>C MANE Select | NP_003403.2:n.1147-113T>C |