Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57197086T>C , CM000674.2:g.57197086T>C | GRCh38 |
| NC_000012.11:g.57590869T>C , CM000674.1:g.57590869T>C | GRCh37 |
| NC_000012.10:g.55877136T>C | NCBI36 |
| NG_016444.1:g.73588T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243077.8:c.8997T>C MANE Select | ENSP00000243077.3:p.Thr2999= | |
| ENST00000243077.7:c.8997T>C | ENSP00000243077.3:p.Thr2999= | |
| NM_002332.2:c.8997T>C | NP_002323.2:p.Thr2999= | |
| XM_017019303.1:c.9048T>C | XP_016874792.1:p.Thr3016= | |
| NM_002332.3:c.8997T>C MANE Select | NP_002323.2:p.Thr2999= |