Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075614G>C , CM000679.2:g.8075614G>C | GRCh38 |
| NC_000017.10:g.7978932G>C , CM000679.1:g.7978932G>C | GRCh37 |
| NC_000017.9:g.7919657G>C | NCBI36 |
| NG_007099.1:g.17090C>G | |
| NG_007099.2:g.17103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1635C>G MANE Select | ENSP00000497784.1:p.Leu545= | |
| ENST00000649809.1:c.699C>G | ENSP00000496845.1:p.Leu233= | |
| ENST00000319144.4:c.1635C>G | ENSP00000315167.4:p.Leu545= | |
| ENST00000577351.5:n.479+561C>G | ||
| NM_001139.2:c.1635C>G | NP_001130.1:p.Leu545= | |
| NM_001139.3:c.1635C>G MANE Select | NP_001130.1:p.Leu545= |