Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048009G>C , CM000682.2:g.23048009G>C | GRCh38 |
| NC_000020.10:g.23028646G>C , CM000682.1:g.23028646G>C | GRCh37 |
| NC_000020.9:g.22976646G>C | NCBI36 |
| NG_012027.1:g.6656C>G , LRG_168:g.6656C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.1496C>G MANE Select | NP_000352.1:p.Pro499Arg |
| ENST00000377103.3:c.1496C>G MANE Select | ENSP00000366307.2:p.Pro499Arg |
| NM_000361.2:c.1496C>G , LRG_168t1:c.1496C>G | NP_000352.1:p.Pro499Arg |
| ENST00000377103.2:c.1496C>G | ENSP00000366307.2:p.Pro499Arg |