Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56128565C>G , CM000674.2:g.56128565C>G | GRCh38 |
| NC_000012.11:g.56522349C>G , CM000674.1:g.56522349C>G | GRCh37 |
| NC_000012.10:g.54808616C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394048.10:c.246C>G MANE Select | ENSP00000377612.5:p.Leu82= | |
| ENST00000267113.4:c.246C>G | ENSP00000267113.4:p.Leu82= | |
| ENST00000394048.9:c.246C>G | ENSP00000377612.5:p.Leu82= | |
| ENST00000551790.5:c.-118C>G | ENSP00000447756.1:n.-118C>G | |
| NM_001184796.1:c.246C>G | NP_001171725.1:p.Leu82= | |
| NM_015292.2:c.246C>G | NP_056107.1:p.Leu82= | |
| NM_001184796.2:c.246C>G | NP_001171725.1:p.Leu82= | |
| NM_015292.3:c.246C>G MANE Select | NP_056107.1:p.Leu82= |