Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476712G>A , CM000675.2:g.48476712G>A | GRCh38 |
| NC_000013.10:g.49050848G>A , CM000675.1:g.49050848G>A | GRCh37 |
| NC_000013.9:g.47948849G>A | NCBI36 |
| NG_009009.1:g.177966G>A , LRG_517:g.177966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2532G>A MANE Select | ENSP00000267163.4:p.Lys844= | |
| ENST00000643064.1:c.194+95269G>A | ||
| ENST00000650461.1:c.2532G>A | ENSP00000497193.1:p.Lys844= | |
| ENST00000267163.4:c.2532G>A | ENSP00000267163.4:p.Lys844= | |
| ENST00000484879.1:n.266G>A | ||
| ENST00000531171.5:n.135G>A | ||
| NM_000321.2:c.2532G>A , LRG_517t1:c.2532G>A | NP_000312.2:p.Lys844= | |
| XM_011535171.1:c.2271G>A | XP_011533473.1:p.Lys757= | |
| XM_011535171.2:c.2271G>A | XP_011533473.1:p.Lys757= | |
| NM_000321.3:c.2532G>A MANE Select | NP_000312.2:p.Lys844= |