Linked Data
dbSNP Id:
rs1051707057
gnomAD v2:
2-108994921-C-A
gnomAD v3:
2-108378465-C-A
gnomAD v4:
2-108378465-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108378465C>A , CM000664.2:g.108378465C>A | GRCh38 |
| NC_000002.11:g.108994921C>A , CM000664.1:g.108994921C>A | GRCh37 |
| NC_000002.10:g.108361353C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272452.7:c.128C>A MANE Select | ENSP00000272452.2:p.Ala43Asp | |
| ENST00000272452.6:c.128C>A | ENSP00000272452.2:p.Ala43Asp | |
| ENST00000409309.3:c.128C>A | ENSP00000387225.3:p.Ala43Asp | |
| ENST00000494122.1:n.555C>A | ||
| NM_006588.2:c.128C>A | NP_006579.2:p.Ala43Asp | |
| XM_005263919.2:c.128C>A | XP_005263976.1:p.Ala43Asp | |
| NM_001321770.1:c.128C>A | NP_001308699.1:p.Ala43Asp | |
| NM_006588.3:c.128C>A | NP_006579.2:p.Ala43Asp | |
| NR_135776.1:n.555C>A | ||
| NR_135779.1:n.555C>A | ||
| XM_017003807.1:c.-193C>A | XP_016859296.1:n.-193C>A | |
| NM_006588.4:c.128C>A MANE Select | NP_006579.2:p.Ala43Asp | |
| NM_001321770.2:c.128C>A | NP_001308699.1:p.Ala43Asp | |
| NR_135776.2:n.512C>A | ||
| NR_135779.2:n.512C>A |