Linked Data
dbSNP Id:
rs536571137
ExAC:
2:108994923 A / G
gnomAD v2:
2-108994923-A-G
gnomAD v3:
2-108378467-A-G
gnomAD v4:
2-108378467-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108378467A>G , CM000664.2:g.108378467A>G | GRCh38 |
| NC_000002.11:g.108994923A>G , CM000664.1:g.108994923A>G | GRCh37 |
| NC_000002.10:g.108361355A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272452.7:c.130A>G MANE Select | ENSP00000272452.2:p.Lys44Glu | |
| ENST00000272452.6:c.130A>G | ENSP00000272452.2:p.Lys44Glu | |
| ENST00000409309.3:c.130A>G | ENSP00000387225.3:p.Lys44Glu | |
| ENST00000494122.1:n.557A>G | ||
| NM_006588.2:c.130A>G | NP_006579.2:p.Lys44Glu | |
| XM_005263919.2:c.130A>G | XP_005263976.1:p.Lys44Glu | |
| NM_001321770.1:c.130A>G | NP_001308699.1:p.Lys44Glu | |
| NM_006588.3:c.130A>G | NP_006579.2:p.Lys44Glu | |
| NR_135776.1:n.557A>G | ||
| NR_135779.1:n.557A>G | ||
| XM_017003807.1:c.-191A>G | XP_016859296.1:n.-191A>G | |
| NM_006588.4:c.130A>G MANE Select | NP_006579.2:p.Lys44Glu | |
| NM_001321770.2:c.130A>G | NP_001308699.1:p.Lys44Glu | |
| NR_135776.2:n.514A>G | ||
| NR_135779.2:n.514A>G |