Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189045877G>C , CM000664.2:g.189045877G>C | GRCh38 |
| NC_000002.11:g.189910603G>C , CM000664.1:g.189910603G>C | GRCh37 |
| NC_000002.10:g.189618848G>C | NCBI36 |
| NG_011799.1:g.139003C>G | |
| NG_011799.2:g.139003C>G | |
| NG_011799.3:g.184425C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3232C>G MANE Select | ENSP00000364000.3:p.Leu1078Val | |
| ENST00000374866.7:c.3232C>G | ENSP00000364000.3:p.Leu1078Val | |
| ENST00000618828.1:c.2071C>G | ENSP00000482184.1:p.Leu691Val | |
| NM_000393.3:c.3232C>G | NP_000384.2:p.Leu1078Val | |
| XM_011510573.1:c.3094C>G | XP_011508875.1:p.Leu1032Val | |
| NM_000393.4:c.3232C>G | NP_000384.2:p.Leu1078Val | |
| XM_011510573.3:c.3094C>G | XP_011508875.1:p.Leu1032Val | |
| NM_000393.5:c.3232C>G MANE Select | NP_000384.2:p.Leu1078Val |