Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381309C>G , CM000675.2:g.48381309C>G | GRCh38 |
| NC_000013.10:g.48955445C>G , CM000675.1:g.48955445C>G | GRCh37 |
| NC_000013.9:g.47853446C>G | NCBI36 |
| NG_009009.1:g.82563C>G , LRG_517:g.82563C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1561C>G MANE Select | ENSP00000267163.4:p.Leu521Val | |
| ENST00000643064.1:c.60C>G | ||
| ENST00000650461.1:c.1561C>G | ENSP00000497193.1:p.Leu521Val | |
| ENST00000267163.4:c.1561C>G | ENSP00000267163.4:p.Leu521Val | |
| NM_000321.2:c.1561C>G , LRG_517t1:c.1561C>G | NP_000312.2:p.Leu521Val | |
| XM_011535171.1:c.1300C>G | XP_011533473.1:p.Leu434Val | |
| XM_011535171.2:c.1300C>G | XP_011533473.1:p.Leu434Val | |
| NM_000321.3:c.1561C>G MANE Select | NP_000312.2:p.Leu521Val |