Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.128268254G>C , CM000664.2:g.128268254G>C | GRCh38 |
| NC_000002.11:g.129025828G>C , CM000664.1:g.129025828G>C | GRCh37 |
| NC_000002.10:g.128742298G>C | NCBI36 |
| NG_032966.1:g.55344C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259241.7:c.1144C>G MANE Select | ENSP00000259241.6:p.Arg382Gly | |
| ENST00000259241.6:c.1144C>G | ENSP00000259241.6:p.Arg382Gly | |
| ENST00000469019.1:n.361-21729C>G | ||
| NM_004807.2:c.1144C>G | NP_004798.3:p.Arg382Gly | |
| NM_004807.3:c.1144C>G MANE Select | NP_004798.3:p.Arg382Gly |