Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154156369A>G , CM000685.2:g.154156369A>G | GRCh38 |
| NC_000023.10:g.153421844A>G , CM000685.1:g.153421844A>G | GRCh37 |
| NC_000023.9:g.153075038A>G | NCBI36 |
| NG_009105.2:g.17119A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020061.6:c.820A>G MANE Select | NP_064445.2:p.Ile274Val |
| ENST00000369951.9:c.820A>G MANE Select | ENSP00000358967.4:p.Ile274Val |
| NM_020061.5:c.820A>G | NP_064445.2:p.Ile274Val |
| ENST00000369951.8:c.820A>G | ENSP00000358967.4:p.Ile274Val |
| ENST00000442922.1:c.384+25A>G | ENSP00000402493.1:n.384+25A>G |
| ENST00000463296.1:n.664A>G |