Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229302958C>G , CM000663.2:g.229302958C>G | GRCh38 |
| NC_000001.10:g.229438705C>G , CM000663.1:g.229438705C>G | GRCh37 |
| NC_000001.9:g.227505328C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004578.4:c.638C>G MANE Select | NP_004569.2:p.Ala213Gly |
| ENST00000366690.5:c.638C>G MANE Select | ENSP00000355651.4:p.Ala213Gly |
| NM_001271998.1:c.323C>G | NP_001258927.1:p.Ala108Gly |
| NM_001271998.2:c.323C>G | NP_001258927.1:p.Ala108Gly |
| NM_004578.3:c.638C>G | NP_004569.2:p.Ala213Gly |
| NR_073545.1:n.878C>G | |
| NR_073545.2:n.829C>G | |
| ENST00000366690.4:c.638C>G | ENSP00000355651.4:p.Ala213Gly |
| ENST00000473894.1:n.588C>G | |
| ENST00000618010.4:c.323C>G | ENSP00000482077.1:p.Ala108Gly |