Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122146362G>A , CM000674.2:g.122146362G>A | GRCh38 |
| NC_000012.11:g.122630909G>A , CM000674.1:g.122630909G>A | GRCh37 |
| NC_000012.10:g.121196862G>A | NCBI36 |
| NG_033995.1:g.72635G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014938.6:c.*4550G>A MANE Select | NP_055753.3:n.*4550G>A |
| ENST00000319080.12:c.*4550G>A MANE Select | ENSP00000312834.6:n.*4550G>A |
| NM_014938.5:c.*4550G>A | NP_055753.3:n.*4550G>A |
| ENST00000319080.11:c.*4550G>A | ENSP00000312834.6:n.*4550G>A |
| XM_006719290.4:c.*4542G>A | XP_006719353.1:n.*4542G>A |
| XM_006719291.4:c.*4542G>A | XP_006719354.1:n.*4542G>A |
| XM_006719294.4:c.*4542G>A | XP_006719357.1:n.*4542G>A |
| XR_001748624.2:n.7170G>A | |
| XR_944508.3:n.7295G>A | |
| XR_944509.3:n.7298G>A |