Linked Data
ClinVar Variation Id:
338840
ClinVar RCV Id:
RCV000294593
dbSNP Id:
rs886056790
gnomAD v4:
20-54173596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54173596G>A , CM000682.2:g.54173596G>A | GRCh38 |
| NC_000020.10:g.52790135G>A , CM000682.1:g.52790135G>A | GRCh37 |
| NC_000020.9:g.52223542G>A | NCBI36 |
| NG_008334.1:g.5382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.-17C>T MANE Select | ENSP00000216862.3:n.-17C>T | |
| ENST00000216862.7:c.-17C>T | ENSP00000216862.3:n.-17C>T | |
| ENST00000395955.7:c.-17C>T | ENSP00000379285.3:n.-17C>T | |
| NM_000782.4:c.-17C>T | NP_000773.2:n.-17C>T | |
| NM_001128915.1:c.-17C>T | NP_001122387.1:n.-17C>T | |
| XM_005260304.3:c.-17C>T | XP_005260361.1:n.-17C>T | |
| XM_005260304.5:c.-17C>T | XP_005260361.1:n.-17C>T | |
| XM_017027691.2:c.-17C>T | XP_016883180.1:n.-17C>T | |
| XM_017027692.2:c.-17C>T | XP_016883181.1:n.-17C>T | |
| XM_017027693.2:c.-17C>T | XP_016883182.1:n.-17C>T | |
| NM_000782.5:c.-17C>T MANE Select | NP_000773.2:n.-17C>T | |
| NM_001128915.2:c.-17C>T | NP_001122387.1:n.-17C>T |