Linked Data
ClinVar Variation Id:
3059119
ClinVar RCV Id:
RCV003979707
dbSNP Id:
rs2236771
ExAC:
1:20304962 C / G
gnomAD v2:
1-20304962-C-G
gnomAD v3:
1-19978469-C-G
gnomAD v4:
1-19978469-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19978469C>G , CM000663.2:g.19978469C>G | GRCh38 |
| NC_000001.10:g.20304962C>G , CM000663.1:g.20304962C>G | GRCh37 |
| NC_000001.9:g.20177549C>G | NCBI36 |
| NG_012928.1:g.6971G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482011.3:c.96G>C MANE Select | ENSP00000504762.1:p.Thr32= | |
| ENST00000400520.8:c.96G>C | ENSP00000383364.3:p.Thr32= | |
| ENST00000482011.2:c.96G>C | ENSP00000504762.1:p.Thr32= | |
| ENST00000649436.1:c.15G>C | ENSP00000496912.1:p.Thr5= | |
| ENST00000375111.7:c.96G>C | ENSP00000364252.3:p.Thr32= | |
| ENST00000400520.7:c.96G>C | ENSP00000383364.3:p.Thr32= | |
| ENST00000461140.1:n.350G>C | ||
| ENST00000469162.5:n.262G>C | ||
| ENST00000482011.1:n.368G>C | ||
| ENST00000491964.5:n.328G>C | ||
| ENST00000496748.1:n.446G>C | ||
| NM_000300.3:c.96G>C | NP_000291.1:p.Thr32= | |
| NM_001161727.1:c.96G>C | NP_001155199.1:p.Thr32= | |
| NM_001161728.1:c.96G>C | NP_001155200.1:p.Thr32= | |
| NM_001161729.1:c.96G>C | NP_001155201.1:p.Thr32= | |
| NM_000300.4:c.96G>C | NP_000291.1:p.Thr32= | |
| NM_001161727.2:c.96G>C | NP_001155199.1:p.Thr32= | |
| NM_001161728.2:c.96G>C | NP_001155200.1:p.Thr32= | |
| NM_001395463.1:c.96G>C MANE Select | NP_001382392.1:p.Thr32= |