Linked Data
ClinVar Variation Id:
3182175
ClinVar RCV Id:
RCV004473589
dbSNP Id:
rs574761647
ExAC:
20:368892 G / A
gnomAD v2:
20-368892-G-A
gnomAD v3:
20-388248-G-A
gnomAD v4:
20-388248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.388248G>A , CM000682.2:g.388248G>A | GRCh38 |
| NC_000020.10:g.368892G>A , CM000682.1:g.368892G>A | GRCh37 |
| NC_000020.9:g.316892G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217233.9:c.238G>A MANE Select | ENSP00000217233.3:p.Gly80Arg | |
| ENST00000217233.8:c.238G>A | ENSP00000217233.3:p.Gly80Arg | |
| ENST00000217233.7:c.238G>A | ENSP00000217233.3:p.Gly80Arg | |
| ENST00000422053.3:c.319G>A | ENSP00000415416.2:p.Gly107Arg | |
| ENST00000449710.5:c.238G>A | ENSP00000391873.1:p.Gly80Arg | |
| ENST00000615226.4:c.238G>A | ENSP00000478194.1:p.Gly80Arg | |
| NM_001301188.1:c.238G>A | NP_001288117.1:p.Gly80Arg | |
| NM_001301190.1:c.238G>A | NP_001288119.1:p.Gly80Arg | |
| NM_001301193.1:c.238G>A | NP_001288122.1:p.Gly80Arg | |
| NM_001301196.1:c.238G>A | NP_001288125.1:p.Gly80Arg | |
| NM_001301201.1:c.319G>A | NP_001288130.1:p.Gly107Arg | |
| NM_021158.4:c.238G>A | NP_066981.2:p.Gly80Arg | |
| XM_017027989.2:c.319G>A | XP_016883478.1:p.Gly107Arg | |
| NM_021158.5:c.238G>A MANE Select | NP_066981.2:p.Gly80Arg |