Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101246107T>C , CM000665.2:g.101246107T>C | GRCh38 |
| NC_000003.11:g.100964951T>C , CM000665.1:g.100964951T>C | GRCh37 |
| NC_000003.10:g.102447641T>C | NCBI36 |
| NG_028284.1:g.79469A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.1240-2A>G MANE Select | NP_057331.2:n.1240-2A>G |
| ENST00000193391.8:c.1240-2A>G MANE Select | ENSP00000193391.6:n.1240-2A>G |
| NM_016247.3:c.1240-2A>G | NP_057331.2:n.1240-2A>G |
| ENST00000193391.7:c.1240-2A>G | ENSP00000193391.6:n.1240-2A>G |
| XM_011512871.1:c.946-2A>G | XP_011511173.1:n.946-2A>G |
| XM_011512872.1:c.829-2A>G | XP_011511174.1:n.829-2A>G |