Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147410565C>G , CM000665.2:g.147410565C>G | GRCh38 |
| NC_000003.11:g.147128352C>G , CM000665.1:g.147128352C>G | GRCh37 |
| NC_000003.10:g.148611042C>G | NCBI36 |
| NG_009242.1:g.1056G>C | |
| NG_015886.1:g.6172C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.453C>G MANE Select | ENSP00000282928.4:p.Ala151= | |
| ENST00000282928.4:c.453C>G | ENSP00000282928.4:p.Ala151= | |
| ENST00000472523.1:n.521+16623C>G | ||
| ENST00000488404.5:c.49-1953C>G | ||
| NM_003412.3:c.453C>G | NP_003403.2:p.Ala151= | |
| NM_003412.4:c.453C>G MANE Select | NP_003403.2:p.Ala151= |