Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571544C= , CM000663.2:g.154571544C= | GRCh38 |
| NC_000001.10:g.154544020C= , CM000663.1:g.154544020C= | GRCh37 |
| NC_000001.9:g.152810644C= | NCBI36 |
| NG_008027.1:g.8764C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.721C= MANE Select | ENSP00000357461.3:p.Leu241= | |
| ENST00000636034.1:c.721C= | ENSP00000489703.1:p.Leu241= | |
| ENST00000637900.1:c.727C= | ENSP00000490474.1:p.Leu243= | |
| ENST00000368476.3:c.721C= | ENSP00000357461.3:p.Leu241= | |
| NM_000748.2:c.721C= | NP_000739.1:p.Leu241= | |
| XM_017000180.2:c.211C= | XP_016855669.1:p.Leu71= | |
| XR_001736952.2:n.973C= | ||
| NM_000748.3:c.721C= MANE Select | NP_000739.1:p.Leu241= |