Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48360061T>G , CM000675.2:g.48360061T>G | GRCh38 |
| NC_000013.10:g.48934197T>G , CM000675.1:g.48934197T>G | GRCh37 |
| NC_000013.9:g.47832198T>G | NCBI36 |
| NG_009009.1:g.61315T>G , LRG_517:g.61315T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.652T>G MANE Select | NP_000312.2:p.Leu218Val |
| ENST00000267163.6:c.652T>G MANE Select | ENSP00000267163.4:p.Leu218Val |
| NM_000321.2:c.652T>G , LRG_517t1:c.652T>G | NP_000312.2:p.Leu218Val |
| ENST00000267163.4:c.652T>G | ENSP00000267163.4:p.Leu218Val |
| ENST00000467505.5:c.*20T>G | ENSP00000434702.1:n.*20T>G |
| ENST00000525036.1:n.814T>G | |
| ENST00000650461.1:c.652T>G | ENSP00000497193.1:p.Leu218Val |
| XM_011535171.1:c.391T>G | XP_011533473.1:p.Leu131Val |
| XM_011535171.2:c.391T>G | XP_011533473.1:p.Leu131Val |