Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40907611A>G , CM000684.2:g.40907611A>G | GRCh38 |
| NC_000022.10:g.41303615A>G , CM000684.1:g.41303615A>G | GRCh37 |
| NC_000022.9:g.39633561A>G | NCBI36 |
| NG_028221.1:g.55531A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022098.4:c.817A>G MANE Select | NP_071381.1:p.Ser273Gly |
| ENST00000357137.9:c.817A>G MANE Select | ENSP00000349658.4:p.Ser273Gly |
| NM_022098.3:c.817A>G | NP_071381.1:p.Ser273Gly |
| ENST00000357137.8:c.817A>G | ENSP00000349658.4:p.Ser273Gly |
| ENST00000428799.1:c.*699A>G | ENSP00000394283.1:n.*699A>G |