Linked Data
dbSNP Id:
rs1192492875
gnomAD v2:
2-201950289-G-A
gnomAD v3:
2-201085566-G-A
gnomAD v4:
2-201085566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201085566G>A , CM000664.2:g.201085566G>A | GRCh38 |
| NC_000002.11:g.201950289G>A , CM000664.1:g.201950289G>A | GRCh37 |
| NC_000002.10:g.201658534G>A | NCBI36 |
| NG_032156.1:g.18828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450023.6:c.248G>A | ENSP00000401834.2:p.Gly83Glu | |
| ENST00000682325.1:c.248G>A | ENSP00000507925.1:p.Gly83Glu | |
| ENST00000684175.1:c.248G>A | ENSP00000508132.1:p.Gly83Glu | |
| ENST00000684420.1:c.248G>A | ENSP00000508208.1:p.Gly83Glu | |
| ENST00000237889.9:c.248G>A MANE Select | ENSP00000237889.4:p.Gly83Glu | |
| ENST00000237889.8:c.248G>A | ENSP00000237889.4:p.Gly83Glu | |
| ENST00000433898.5:c.248G>A | ENSP00000410600.1:p.Gly83Glu | |
| ENST00000454214.1:c.248G>A | ENSP00000407336.1:p.Gly83Glu | |
| NM_001257102.1:c.248G>A | NP_001244031.1:p.Gly83Glu | |
| NM_002491.2:c.248G>A | NP_002482.1:p.Gly83Glu | |
| XM_011511230.1:c.248G>A | XP_011509532.1:p.Gly83Glu | |
| XM_011511230.3:c.248G>A | XP_011509532.1:p.Gly83Glu | |
| XM_017004186.2:c.248G>A | XP_016859675.1:p.Gly83Glu | |
| NM_002491.3:c.248G>A MANE Select | NP_002482.1:p.Gly83Glu | |
| NM_001257102.2:c.248G>A | NP_001244031.1:p.Gly83Glu |