Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150977890G>C , CM000669.2:g.150977890G>C | GRCh38 |
| NC_000007.13:g.150674978G>C , CM000669.1:g.150674978G>C | GRCh37 |
| NC_000007.12:g.150305911G>C | NCBI36 |
| NG_008916.1:g.5037C>G , LRG_288:g.5037C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.24C>G MANE Select | ENSP00000262186.5:p.Val8= | |
| ENST00000262186.9:c.24C>G | ENSP00000262186.5:p.Val8= | |
| ENST00000430723.4:c.-154C>G | ENSP00000387657.4:n.-154C>G | |
| ENST00000532957.5:n.247C>G | ||
| NM_000238.3:c.24C>G , LRG_288t1:c.24C>G | NP_000229.1:p.Val8= | |
| NM_172056.2:c.24C>G , LRG_288t2:c.24C>G | NP_742053.1:p.Val8= | |
| XM_011516186.1:c.24C>G | XP_011514488.1:p.Val8= | |
| XM_011516186.3:c.24C>G | XP_011514488.1:p.Val8= | |
| NM_000238.4:c.24C>G MANE Select | NP_000229.1:p.Val8= |