Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63056043C>G , CM000664.2:g.63056043C>G | GRCh38 |
| NC_000002.11:g.63283178C>G , CM000664.1:g.63283178C>G | GRCh37 |
| NC_000002.10:g.63136682C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282549.7:c.792C>G MANE Select | ENSP00000282549.2:p.Leu264= | |
| ENST00000282549.6:c.792C>G | ENSP00000282549.2:p.Leu264= | |
| ENST00000366671.7:c.792C>G | ENSP00000355631.3:p.Leu264= | |
| ENST00000405984.8:c.*601C>G | ENSP00000385782.4:n.*601C>G | |
| NM_001199770.1:c.792C>G | NP_001186699.1:p.Leu264= | |
| NM_014562.3:c.792C>G | NP_055377.1:p.Leu264= | |
| NR_130153.1:n.1183C>G | ||
| NM_014562.4:c.792C>G MANE Select | NP_055377.1:p.Leu264= | |
| NM_001199770.2:c.792C>G | NP_001186699.1:p.Leu264= | |
| NR_130153.2:n.1155C>G |