Linked Data
ClinVar Variation Id:
2068349
ClinVar RCV Id:
RCV002971099
dbSNP Id:
rs757920706
ExAC:
20:17511882 G / T
gnomAD v2:
20-17511882-G-T
gnomAD v3:
20-17531237-G-T
gnomAD v4:
20-17531237-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17531237G>T , CM000682.2:g.17531237G>T | GRCh38 |
| NC_000020.10:g.17511882G>T , CM000682.1:g.17511882G>T | GRCh37 |
| NC_000020.9:g.17459882G>T | NCBI36 |
| NG_012423.2:g.42984C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377873.8:c.93C>A MANE Select | ENSP00000367104.3:p.Ala31= | |
| ENST00000536626.7:c.-40-6329C>A | ENSP00000442522.1:n.-40-6329C>A | |
| ENST00000377868.6:c.3-6329C>A | ENSP00000367099.2:n.3-6329C>A | |
| ENST00000377873.7:c.93C>A | ENSP00000367104.3:p.Ala31= | |
| ENST00000473415.1:n.472-6329C>A | ||
| ENST00000536626.5:c.-40-6329C>A | ENSP00000442522.1:n.-40-6329C>A | |
| NM_001161705.1:c.3-6329C>A | NP_001155177.1:n.3-6329C>A | |
| NM_001195.4:c.93C>A | NP_001186.1:p.Ala31= | |
| NM_001278606.1:c.-40-6329C>A | NP_001265535.1:n.-40-6329C>A | |
| NM_001278607.1:c.45-6329C>A | NP_001265536.1:n.45-6329C>A | |
| NM_001278608.1:c.-40-6329C>A | NP_001265537.1:n.-40-6329C>A | |
| XM_011529312.1:c.-40-6329C>A | XP_011527614.1:n.-40-6329C>A | |
| XM_017028005.2:c.93C>A | XP_016883494.1:p.Ala31= | |
| NM_001195.5:c.93C>A MANE Select | NP_001186.1:p.Ala31= | |
| NM_001161705.2:c.3-6329C>A | NP_001155177.1:n.3-6329C>A | |
| NM_001278606.2:c.-40-6329C>A | NP_001265535.1:n.-40-6329C>A | |
| NM_001278607.2:c.45-6329C>A | NP_001265536.1:n.45-6329C>A | |
| NM_001278608.2:c.-40-6329C>A | NP_001265537.1:n.-40-6329C>A |