Linked Data
ClinVar Variation Id:
338809
ClinVar RCV Id:
RCV000270587
dbSNP Id:
rs552552032
gnomAD v2:
20-52771260-C-T
gnomAD v3:
20-54154721-C-T
gnomAD v4:
20-54154721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54154721C>T , CM000682.2:g.54154721C>T | GRCh38 |
| NC_000020.10:g.52771260C>T , CM000682.1:g.52771260C>T | GRCh37 |
| NC_000020.9:g.52204667C>T | NCBI36 |
| NG_008334.1:g.24257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.*51G>A MANE Select | ENSP00000216862.3:n.*51G>A | |
| ENST00000216862.7:c.*51G>A | ENSP00000216862.3:n.*51G>A | |
| ENST00000395954.3:c.*51G>A | ENSP00000379284.3:n.*51G>A | |
| ENST00000395955.7:c.*51G>A | ENSP00000379285.3:n.*51G>A | |
| ENST00000460643.1:n.343G>A | ||
| NM_000782.4:c.*51G>A | NP_000773.2:n.*51G>A | |
| NM_001128915.1:c.*51G>A | NP_001122387.1:n.*51G>A | |
| XM_005260304.3:c.*223G>A | XP_005260361.1:n.*223G>A | |
| XM_005260304.5:c.*223G>A | XP_005260361.1:n.*223G>A | |
| XM_017027691.2:c.*71G>A | XP_016883180.1:n.*71G>A | |
| XM_017027692.2:c.*10+2448G>A | XP_016883181.1:n.*10+2448G>A | |
| XM_017027693.2:c.*223G>A | XP_016883182.1:n.*223G>A | |
| NM_000782.5:c.*51G>A MANE Select | NP_000773.2:n.*51G>A | |
| NM_001128915.2:c.*51G>A | NP_001122387.1:n.*51G>A |