Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37803948A>G , CM000685.2:g.37803948A>G | GRCh38 |
| NC_000023.10:g.37663201A>G , CM000685.1:g.37663201A>G | GRCh37 |
| NC_000023.9:g.37548145A>G | NCBI36 |
| NG_009065.1:g.28932A>G , LRG_53:g.28932A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000397.4:c.969A>G MANE Select | NP_000388.2:p.Gln323= |
| ENST00000378588.5:c.969A>G MANE Select | ENSP00000367851.4:p.Gln323= |
| NM_000397.3:c.969A>G , LRG_53t1:c.969A>G | NP_000388.2:p.Gln323= |
| ENST00000378588.4:c.969A>G | ENSP00000367851.4:p.Gln323= |
| ENST00000465127.1:c.171+377948A>G | ENSP00000417050.1:n.171+377948A>G |
| ENST00000492288.1:n.394A>G | |
| ENST00000696170.1:c.*478A>G | ENSP00000512461.1:n.*478A>G |
| ENST00000696171.1:c.873A>G | ENSP00000512462.1:p.Gln291= |
| XM_011543890.1:c.663A>G | XP_011542192.1:p.Gln221= |