Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371864T>A , CM000680.2:g.60371864T>A | GRCh38 |
| NC_000018.9:g.58039097T>A , CM000680.1:g.58039097T>A | GRCh37 |
| NC_000018.8:g.56190077T>A | NCBI36 |
| NG_016441.1:g.5905A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.486A>T MANE Select | ENSP00000299766.3:p.Thr162= | |
| ENST00000299766.4:c.486A>T | ENSP00000299766.3:p.Thr162= | |
| NM_005912.2:c.486A>T | NP_005903.2:p.Thr162= | |
| NM_005912.3:c.486A>T MANE Select | NP_005903.2:p.Thr162= |