Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100669287A>G , CM000685.2:g.100669287A>G | GRCh38 |
| NC_000023.10:g.99924284A>G , CM000685.1:g.99924284A>G | GRCh37 |
| NC_000023.9:g.99810940A>G | NCBI36 |
| NG_021337.1:g.30122A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1135A>G MANE Select | ENSP00000362095.3:p.Ile379Val | |
| ENST00000638920.1:n.1138A>G | ||
| ENST00000640282.1:c.142-1520A>G | ENSP00000491188.1:n.142-1520A>G | |
| ENST00000373004.3:c.1135A>G | ENSP00000362095.3:p.Ile379Val | |
| NM_014467.2:c.1135A>G | NP_055282.1:p.Ile379Val | |
| XM_005262121.2:c.1135A>G | XP_005262178.1:p.Ile379Val | |
| NM_014467.3:c.1135A>G MANE Select | NP_055282.1:p.Ile379Val |