Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134473483A>G , CM000685.2:g.134473483A>G | GRCh38 |
| NC_000023.10:g.133607513A>G , CM000685.1:g.133607513A>G | GRCh37 |
| NC_000023.9:g.133435179A>G | NCBI36 |
| NG_012329.1:g.18339A>G | |
| NG_012329.2:g.18339A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.134+18A>G MANE Select | NP_000185.1:n.134+18A>G |
| ENST00000298556.8:c.134+18A>G MANE Select | ENSP00000298556.7:n.134+18A>G |
| NM_000194.2:c.134+18A>G | NP_000185.1:n.134+18A>G |
| ENST00000298556.7:c.134+18A>G | ENSP00000298556.7:n.134+18A>G |
| ENST00000462974.5:n.292+18A>G | |
| ENST00000475720.1:n.92+18A>G | |
| XM_011531328.1:c.152+18A>G | XP_011529630.1:n.152+18A>G |