Linked Data
ClinVar Variation Id:
1728173
ClinVar RCV Id:
RCV002320805
dbSNP Id:
rs201123742
ExAC:
22:19906443 C / T
gnomAD v2:
22-19906443-C-T
gnomAD v3:
22-19918920-C-T
gnomAD v4:
22-19918920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918920C>T , CM000684.2:g.19918920C>T | GRCh38 |
| NC_000022.10:g.19906443C>T , CM000684.1:g.19906443C>T | GRCh37 |
| NC_000022.9:g.18286443C>T | NCBI36 |
| NG_011835.1:g.27917G>A , LRG_417:g.27917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.314G>A MANE Select | ENSP00000383365.1:p.Gly105Asp | |
| ENST00000334363.14:c.314G>A | ENSP00000334451.9:p.Gly105Asp | |
| ENST00000400518.5:c.224G>A | ENSP00000383362.1:p.Gly75Asp | |
| ENST00000400519.6:c.311G>A | ENSP00000383363.1:p.Gly104Asp | |
| ENST00000400521.6:c.314G>A | ENSP00000383365.1:p.Gly105Asp | |
| ENST00000400525.6:c.245G>A | ENSP00000383369.3:p.Gly82Asp | |
| ENST00000474308.5:c.257G>A | ENSP00000485665.1:p.Gly86Asp | |
| ENST00000491939.6:c.218G>A | ENSP00000485543.1:p.Gly73Asp | |
| ENST00000496729.2:n.319G>A | ||
| ENST00000542719.6:c.26G>A | ENSP00000485128.2:p.Gly9Asp | |
| NM_001282512.1:c.314G>A | NP_001269441.1:p.Gly105Asp | |
| NM_006440.4:c.314G>A | NP_006431.2:p.Gly105Asp | |
| NM_001282512.2:c.314G>A | NP_001269441.1:p.Gly105Asp | |
| NM_001352300.1:c.311G>A | NP_001339229.1:p.Gly104Asp | |
| NM_001352301.1:c.224G>A | NP_001339230.1:p.Gly75Asp | |
| NM_001352302.1:c.26G>A | NP_001339231.1:p.Gly9Asp | |
| NM_001352303.1:c.218G>A | NP_001339232.1:p.Gly73Asp | |
| NR_147957.1:n.446G>A | ||
| NM_006440.5:c.314G>A MANE Select | NP_006431.2:p.Gly105Asp | |
| NM_001282512.3:c.314G>A | NP_001269441.1:p.Gly105Asp | |
| NM_001352300.2:c.311G>A | NP_001339229.1:p.Gly104Asp | |
| NR_147957.2:n.272G>A | ||
| NM_001352301.2:c.224G>A | NP_001339230.1:p.Gly75Asp | |
| NM_001352302.2:c.26G>A | NP_001339231.1:p.Gly9Asp | |
| NM_001352303.2:c.218G>A | NP_001339232.1:p.Gly73Asp |