Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37806486G>A , CM000685.2:g.37806486G>A | GRCh38 |
| NC_000023.10:g.37665739G>A , CM000685.1:g.37665739G>A | GRCh37 |
| NC_000023.9:g.37550683G>A | NCBI36 |
| NG_009065.1:g.31470G>A , LRG_53:g.31470G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000397.4:c.1414G>A MANE Select | NP_000388.2:p.Gly472Ser |
| ENST00000378588.5:c.1414G>A MANE Select | ENSP00000367851.4:p.Gly472Ser |
| NM_000397.3:c.1414G>A , LRG_53t1:c.1414G>A | NP_000388.2:p.Gly472Ser |
| ENST00000378588.4:c.1414G>A | ENSP00000367851.4:p.Gly472Ser |
| ENST00000465127.1:c.171+380486G>A | ENSP00000417050.1:n.171+380486G>A |
| ENST00000696170.1:c.*923G>A | ENSP00000512461.1:n.*923G>A |
| ENST00000696171.1:c.1318G>A | ENSP00000512462.1:p.Gly440Ser |
| XM_011543890.1:c.1108G>A | XP_011542192.1:p.Gly370Ser |