Linked Data
ClinVar Variation Id:
346000
dbSNP Id:
rs142116851
ExAC:
3:49163422 G / C
gnomAD v2:
3-49163422-G-C
gnomAD v3:
3-49125989-G-C
gnomAD v4:
3-49125989-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125989G>C , CM000665.2:g.49125989G>C | GRCh38 |
| NC_000003.11:g.49163422G>C , CM000665.1:g.49163422G>C | GRCh37 |
| NC_000003.10:g.49138426G>C | NCBI36 |
| NG_008094.1:g.12178C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2322C>G MANE Select | ENSP00000307156.4:p.Thr774= | |
| ENST00000305544.8:c.2322C>G | ENSP00000307156.4:p.Thr774= | |
| ENST00000418109.5:c.2322C>G | ENSP00000388325.1:p.Thr774= | |
| ENST00000477701.1:n.195C>G | ||
| ENST00000486298.5:n.403C>G | ||
| ENST00000493571.1:n.232C>G | ||
| NM_002292.3:c.2322C>G | NP_002283.3:p.Thr774= | |
| XM_005265127.3:c.2322C>G | XP_005265184.1:p.Thr774= | |
| XM_005265127.4:c.2322C>G | XP_005265184.1:p.Thr774= | |
| NM_002292.4:c.2322C>G MANE Select | NP_002283.3:p.Thr774= |