gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958300G>C , CM000669.2:g.150958300G>C | GRCh38 |
| NC_000007.13:g.150655388G>C , CM000669.1:g.150655388G>C | GRCh37 |
| NC_000007.12:g.150286321G>C | NCBI36 |
| NG_008916.1:g.24627C>G , LRG_288:g.24627C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1508C>G | ||
| ENST00000262186.10:c.675C>G MANE Select | ENSP00000262186.5:p.Leu225= | |
| ENST00000262186.9:c.675C>G | ENSP00000262186.5:p.Leu225= | |
| ENST00000430723.4:c.327C>G | ENSP00000387657.4:p.Leu109= | |
| ENST00000532957.5:n.898C>G | ||
| NM_000238.3:c.675C>G , LRG_288t1:c.675C>G | NP_000229.1:p.Leu225= | |
| NM_172056.2:c.675C>G , LRG_288t2:c.675C>G | NP_742053.1:p.Leu225= | |
| XM_011516185.1:c.375C>G | XP_011514487.1:p.Leu125= | |
| XM_011516186.1:c.675C>G | XP_011514488.1:p.Leu225= | |
| XM_011516185.2:c.375C>G | XP_011514487.1:p.Leu125= | |
| XM_011516186.3:c.675C>G | XP_011514488.1:p.Leu225= | |
| XM_017012195.1:c.525C>G | XP_016867684.1:p.Leu175= | |
| XM_017012196.1:c.498C>G | XP_016867685.1:p.Leu166= | |
| NM_000238.4:c.675C>G MANE Select | NP_000229.1:p.Leu225= |