Linked Data
ClinVar Variation Id:
3109158
ClinVar RCV Id:
RCV004405025
dbSNP Id:
rs2107010860
gnomAD v4:
3-53852929-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53852929C>A , CM000665.2:g.53852929C>A | GRCh38 |
| NC_000003.11:g.53886956C>A , CM000665.1:g.53886956C>A | GRCh37 |
| NC_000003.10:g.53861996C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288167.8:c.413C>A MANE Select | ENSP00000288167.3:p.Ala138Asp | |
| ENST00000288167.7:c.413C>A | ENSP00000288167.3:p.Ala138Asp | |
| ENST00000475124.1:n.418C>A | ||
| ENST00000494338.1:c.413C>A | ENSP00000418638.1:p.Ala138Asp | |
| NM_018725.3:c.413C>A | NP_061195.2:p.Ala138Asp | |
| XM_005265310.3:c.413C>A | XP_005265367.1:p.Ala138Asp | |
| XM_005265311.3:c.413C>A | XP_005265368.1:p.Ala138Asp | |
| XM_005265312.3:c.413C>A | XP_005265369.1:p.Ala138Asp | |
| XM_011533940.1:c.62C>A | XP_011532242.1:p.Ala21Asp | |
| XM_011533941.1:c.413C>A | XP_011532243.1:p.Ala138Asp | |
| XR_245147.3:n.452C>A | ||
| XR_940467.1:n.452C>A | ||
| XR_940468.1:n.452C>A | ||
| XM_005265310.5:c.413C>A | XP_005265367.1:p.Ala138Asp | |
| XM_005265311.5:c.413C>A | XP_005265368.1:p.Ala138Asp | |
| XM_005265312.5:c.413C>A | XP_005265369.1:p.Ala138Asp | |
| XM_011533941.3:c.413C>A | XP_011532243.1:p.Ala138Asp | |
| XM_017006804.2:c.62C>A | XP_016862293.1:p.Ala21Asp | |
| XM_017006805.2:c.62C>A | XP_016862294.1:p.Ala21Asp | |
| XM_017006806.2:c.62C>A | XP_016862295.1:p.Ala21Asp | |
| XM_017006807.2:c.413C>A | XP_016862296.1:p.Ala138Asp | |
| XM_024453634.1:c.413C>A | XP_024309402.1:p.Ala138Asp | |
| XM_024453635.1:c.413C>A | XP_024309403.1:p.Ala138Asp | |
| XM_024453636.1:c.413C>A | XP_024309404.1:p.Ala138Asp | |
| NM_018725.4:c.413C>A MANE Select | NP_061195.2:p.Ala138Asp |