Linked Data
ClinVar Variation Id:
17760
ClinVar RCV Id:
RCV000019337
dbSNP Id:
rs121912741
gnomAD v3:
17-44251588-C-T
gnomAD v4:
17-44251588-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251588C>T , CM000679.2:g.44251588C>T | GRCh38 |
| NC_000017.10:g.42328956C>T , CM000679.1:g.42328956C>T | GRCh37 |
| NC_000017.9:g.39684482C>T | NCBI36 |
| NG_007498.1:g.21547G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2312G>A MANE Select | ENSP00000262418.6:p.Gly771Asp | |
| ENST00000262418.10:c.2312G>A | ENSP00000262418.6:p.Gly771Asp | |
| ENST00000399246.3:c.1214G>A | ENSP00000382190.3:p.Gly405Asp | |
| NM_000342.3:c.2312G>A | NP_000333.1:p.Gly771Asp | |
| XM_005257593.3:c.2117G>A | XP_005257650.1:p.Gly706Asp | |
| XM_011525129.1:c.2222G>A | XP_011523431.1:p.Gly741Asp | |
| XM_011525130.1:c.*22G>A | XP_011523432.1:n.*22G>A | |
| XM_005257593.5:c.2117G>A | XP_005257650.1:p.Gly706Asp | |
| XM_011525129.2:c.2222G>A | XP_011523431.1:p.Gly741Asp | |
| NM_000342.4:c.2312G>A MANE Select | NP_000333.1:p.Gly771Asp |