Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535194T>C , CM000665.2:g.81535194T>C | GRCh38 |
| NC_000003.11:g.81584345T>C , CM000665.1:g.81584345T>C | GRCh37 |
| NC_000003.10:g.81667035T>C | NCBI36 |
| NG_011810.1:g.231607A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1934+1A>G MANE Select | NP_000149.4:n.1934+1A>G |
| ENST00000429644.7:c.1934+1A>G MANE Select | ENSP00000410833.2:n.1934+1A>G |
| NM_000158.3:c.1934+1A>G | NP_000149.3:n.1934+1A>G |
| ENST00000429644.6:c.1934+1A>G | ENSP00000410833.2:n.1934+1A>G |
| ENST00000484687.1:n.336A>G | |
| ENST00000489715.1:c.1811+1A>G | ENSP00000419638.1:n.1811+1A>G |