Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345151T>A , CM000675.2:g.48345151T>A | GRCh38 |
| NC_000013.10:g.48919287T>A , CM000675.1:g.48919287T>A | GRCh37 |
| NC_000013.9:g.47817288T>A | NCBI36 |
| NG_009009.1:g.46405T>A , LRG_517:g.46405T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.452T>A MANE Select | NP_000312.2:p.Leu151Gln |
| ENST00000267163.6:c.452T>A MANE Select | ENSP00000267163.4:p.Leu151Gln |
| NM_000321.2:c.452T>A , LRG_517t1:c.452T>A | NP_000312.2:p.Leu151Gln |
| ENST00000267163.4:c.452T>A | ENSP00000267163.4:p.Leu151Gln |
| ENST00000467505.5:c.138-14866T>A | ENSP00000434702.1:n.138-14866T>A |
| ENST00000525036.1:n.614T>A | |
| ENST00000650461.1:c.452T>A | ENSP00000497193.1:p.Leu151Gln |
| XM_011535171.1:c.191T>A | XP_011533473.1:p.Leu64Gln |
| XM_011535171.2:c.191T>A | XP_011533473.1:p.Leu64Gln |