Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71994499G>A , CM000674.2:g.71994499G>A | GRCh38 |
| NC_000012.11:g.72388279G>A , CM000674.1:g.72388279G>A | GRCh37 |
| NC_000012.10:g.70674546G>A | NCBI36 |
| NG_008279.1:g.60654G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.1002G>A MANE Select | ENSP00000329093.3:p.Gln334= | |
| ENST00000333850.3:c.1002G>A | ENSP00000329093.3:p.Gln334= | |
| NM_173353.3:c.1002G>A | NP_775489.2:p.Gln334= | |
| XM_011537899.1:c.408G>A | XP_011536201.1:p.Gln136= | |
| NM_173353.4:c.1002G>A MANE Select | NP_775489.2:p.Gln334= |