Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033480C= , CM000663.2:g.115033480C= | GRCh38 |
| NC_000001.10:g.115576101C= , CM000663.1:g.115576101C= | GRCh37 |
| NC_000001.9:g.115377624C= | NCBI36 |
| NG_015891.1:g.8687C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.118C= MANE Select | ENSP00000256592.1:p.Leu40= | |
| ENST00000256592.2:c.118C= | ENSP00000256592.1:p.Leu40= | |
| ENST00000369517.1:c.118C= | ENSP00000358530.1:p.Leu40= | |
| NM_000549.4:c.118C= | NP_000540.2:p.Leu40= | |
| XM_011542065.1:c.118C= | XP_011540367.1:p.Leu40= | |
| XM_011542065.2:c.118C= | XP_011540367.1:p.Leu40= | |
| NM_000549.5:c.118C= MANE Select | NP_000540.2:p.Leu40= |