Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48360043C>A , CM000675.2:g.48360043C>A | GRCh38 |
| NC_000013.10:g.48934179C>A , CM000675.1:g.48934179C>A | GRCh37 |
| NC_000013.9:g.47832180C>A | NCBI36 |
| NG_009009.1:g.61297C>A , LRG_517:g.61297C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.634C>A MANE Select | NP_000312.2:p.Leu212Met |
| ENST00000267163.6:c.634C>A MANE Select | ENSP00000267163.4:p.Leu212Met |
| NM_000321.2:c.634C>A , LRG_517t1:c.634C>A | NP_000312.2:p.Leu212Met |
| ENST00000267163.4:c.634C>A | ENSP00000267163.4:p.Leu212Met |
| ENST00000467505.5:c.*2C>A | ENSP00000434702.1:n.*2C>A |
| ENST00000525036.1:n.796C>A | |
| ENST00000650461.1:c.634C>A | ENSP00000497193.1:p.Leu212Met |
| XM_011535171.1:c.373C>A | XP_011533473.1:p.Leu125Met |
| XM_011535171.2:c.373C>A | XP_011533473.1:p.Leu125Met |