gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.5499864A>G , CM000686.2:g.5499864A>G | GRCh38 |
| NC_000024.9:g.5367905A>G , CM000686.1:g.5367905A>G | GRCh37 |
| NC_000024.8:g.5427905A>G | NCBI36 |
| NG_011652.1:g.504639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698851.1:c.2854-1193A>G MANE Select | ENSP00000513983.1:n.2854-1193A>G | |
| ENST00000400457.3:c.3130-1193A>G | ENSP00000383306.3:n.3130-1193A>G | |
| NM_032973.2:c.3130-1193A>G | NP_116755.1:n.3130-1193A>G | |
| XM_011531476.1:c.3097-1193A>G | XP_011529778.1:n.3097-1193A>G | |
| XM_011531477.1:c.3097-1193A>G | XP_011529779.1:n.3097-1193A>G | |
| XM_011531478.1:c.2854-1193A>G | XP_011529780.1:n.2854-1193A>G | |
| XM_017030079.1:c.3097-1193A>G | XP_016885568.1:n.3097-1193A>G | |
| XM_017030080.1:c.3097-1193A>G | XP_016885569.1:n.3097-1193A>G | |
| XM_017030081.1:c.3097-1193A>G | XP_016885570.1:n.3097-1193A>G | |
| NM_001395587.1:c.2854-1193A>G MANE Select | NP_001382516.1:n.2854-1193A>G |