Linked Data
ClinVar Variation Id:
2439530
ClinVar RCV Id:
RCV003143799
dbSNP Id:
rs2273074
ExAC:
20:6751089 G / A
gnomAD v2:
20-6751089-G-A
gnomAD v3:
20-6770442-G-A
gnomAD v4:
20-6770442-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6770442G>A , CM000682.2:g.6770442G>A | GRCh38 |
| NC_000020.10:g.6751089G>A , CM000682.1:g.6751089G>A | GRCh37 |
| NC_000020.9:g.6699089G>A | NCBI36 |
| NG_023233.1:g.7345G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378827.5:c.316G>A MANE Select | ENSP00000368104.3:p.Ala106Thr | |
| ENST00000378827.4:c.316G>A | ENSP00000368104.3:p.Ala106Thr | |
| NM_001200.2:c.316G>A | NP_001191.1:p.Ala106Thr | |
| XM_011529323.1:c.-123+1567G>A | XP_011527625.1:n.-123+1567G>A | |
| NM_001200.3:c.316G>A | NP_001191.1:p.Ala106Thr | |
| NM_001200.4:c.316G>A MANE Select | NP_001191.1:p.Ala106Thr |