Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571682G= , CM000663.2:g.154571682G= | GRCh38 |
| NC_000001.10:g.154544158G= , CM000663.1:g.154544158G= | GRCh37 |
| NC_000001.9:g.152810782G= | NCBI36 |
| NG_008027.1:g.8902G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000748.3:c.859G= MANE Select | NP_000739.1:p.Val287= |
| ENST00000368476.4:c.859G= MANE Select | ENSP00000357461.3:p.Val287= |
| NM_000748.2:c.859G= | NP_000739.1:p.Val287= |
| ENST00000368476.3:c.859G= | ENSP00000357461.3:p.Val287= |
| ENST00000636034.1:c.859G= | ENSP00000489703.1:p.Val287= |
| ENST00000637900.1:c.865G= | ENSP00000490474.1:p.Val289= |
| XM_017000180.2:c.349G= | XP_016855669.1:p.Val117= |
| XR_001736952.2:n.1111G= |