Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899379G>C , CM000679.2:g.4899379G>C | GRCh38 |
| NC_000017.10:g.4802674G>C , CM000679.1:g.4802674G>C | GRCh37 |
| NC_000017.9:g.4743453G>C | NCBI36 |
| NG_008029.2:g.8697C>G | |
| NG_028005.1:g.71040G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1038C>G MANE Select | ENSP00000497829.1:p.Leu346= | |
| ENST00000649830.1:c.105C>G | ENSP00000496907.1:p.Leu35= | |
| ENST00000652550.1:n.768C>G | ||
| ENST00000293780.4:c.1038C>G | ENSP00000293780.4:p.Leu346= | |
| ENST00000572438.1:n.724C>G | ||
| NM_000080.3:c.1038C>G | NP_000071.1:p.Leu346= | |
| NM_000080.4:c.1038C>G MANE Select | NP_000071.1:p.Leu346= | |
| XM_017024115.1:c.1002C>G | XP_016879604.1:p.Leu334= | |
| XR_001752421.1:n.1768C>G |