Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339644C= , CM000669.2:g.17339644C= | GRCh38 |
| NC_000007.13:g.17379268C= , CM000669.1:g.17379268C= | GRCh37 |
| NC_000007.12:g.17345793C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1819C= MANE Select | ENSP00000242057.4:p.Leu607= | |
| ENST00000637807.1:c.1789C= | ENSP00000490530.1:p.Leu597= | |
| ENST00000642825.1:c.1774C= | ENSP00000495987.1:p.Leu592= | |
| ENST00000242057.8:c.1819C= | ENSP00000242057.4:p.Leu607= | |
| ENST00000463496.1:c.1819C= | ENSP00000436466.1:p.Leu607= | |
| NM_001621.4:c.1819C= | NP_001612.1:p.Leu607= | |
| NM_001621.5:c.1819C= MANE Select | NP_001612.1:p.Leu607= |