Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37809604A>G , CM000685.2:g.37809604A>G | GRCh38 |
| NC_000023.10:g.37668857A>G , CM000685.1:g.37668857A>G | GRCh37 |
| NC_000023.9:g.37553801A>G | NCBI36 |
| NG_009065.1:g.34588A>G , LRG_53:g.34588A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*1008A>G | ENSP00000512461.1:n.*1008A>G | |
| ENST00000696171.1:c.1403A>G | ENSP00000512462.1:p.Asp468Gly | |
| ENST00000378588.5:c.1499A>G MANE Select | ENSP00000367851.4:p.Asp500Gly | |
| ENST00000378588.4:c.1499A>G | ENSP00000367851.4:p.Asp500Gly | |
| ENST00000465127.1:c.171+383604A>G | ENSP00000417050.1:n.171+383604A>G | |
| NM_000397.3:c.1499A>G , LRG_53t1:c.1499A>G | NP_000388.2:p.Asp500Gly | |
| XM_011543890.1:c.1193A>G | XP_011542192.1:p.Asp398Gly | |
| NM_000397.4:c.1499A>G MANE Select | NP_000388.2:p.Asp500Gly |