Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571682G>C , CM000663.2:g.154571682G>C | GRCh38 |
| NC_000001.10:g.154544158G>C , CM000663.1:g.154544158G>C | GRCh37 |
| NC_000001.9:g.152810782G>C | NCBI36 |
| NG_008027.1:g.8902G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000748.3:c.859G>C MANE Select | NP_000739.1:p.Val287Leu |
| ENST00000368476.4:c.859G>C MANE Select | ENSP00000357461.3:p.Val287Leu |
| NM_000748.2:c.859G>C | NP_000739.1:p.Val287Leu |
| ENST00000368476.3:c.859G>C | ENSP00000357461.3:p.Val287Leu |
| ENST00000636034.1:c.859G>C | ENSP00000489703.1:p.Val287Leu |
| ENST00000637900.1:c.865G>C | ENSP00000490474.1:p.Val289Leu |
| XM_017000180.2:c.349G>C | XP_016855669.1:p.Val117Leu |
| XR_001736952.2:n.1111G>C |