Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206573128G>A , CM000664.2:g.206573128G>A | GRCh38 |
| NC_000002.11:g.207437852G>A , CM000664.1:g.207437852G>A | GRCh37 |
| NC_000002.10:g.207146097G>A | NCBI36 |
| NG_029874.2:g.134485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264377.8:c.1670G>A MANE Select | ENSP00000264377.3:p.Gly557Glu | |
| ENST00000264377.7:c.1670G>A | ENSP00000264377.3:p.Gly557Glu | |
| ENST00000374415.7:c.1670G>A | ENSP00000363536.3:p.Gly557Glu | |
| NM_003812.3:c.1670G>A | NP_003803.1:p.Gly557Glu | |
| XM_005246932.2:c.1670G>A | XP_005246989.1:p.Gly557Glu | |
| XM_011512086.1:c.1670G>A | XP_011510388.1:p.Gly557Glu | |
| XM_005246932.3:c.1670G>A | XP_005246989.1:p.Gly557Glu | |
| XM_011512086.2:c.1670G>A | XP_011510388.1:p.Gly557Glu | |
| NM_003812.4:c.1670G>A MANE Select | NP_003803.1:p.Gly557Glu |