Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70179486T>A , CM000679.2:g.70179486T>A | GRCh38 |
| NC_000017.10:g.68175627T>A , CM000679.1:g.68175627T>A | GRCh37 |
| NC_000017.9:g.65687222T>A | NCBI36 |
| NG_008798.1:g.14952T>A , LRG_328:g.14952T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.*3163T>A MANE Select | NP_000882.1:n.*3163T>A |
| ENST00000243457.4:c.*3163T>A MANE Select | ENSP00000243457.2:n.*3163T>A |
| NM_000891.2:c.*3163T>A , LRG_328t1:c.*3163T>A | NP_000882.1:n.*3163T>A |
| ENST00000243457.3:c.*3163T>A | ENSP00000243457.2:n.*3163T>A |