Linked Data
ClinVar Variation Id:
344263
dbSNP Id:
rs371143749
ExAC:
3:180349295 C / T
gnomAD v2:
3-180349295-C-T
gnomAD v3:
3-180631507-C-T
gnomAD v4:
3-180631507-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180631507C>T , CM000665.2:g.180631507C>T | GRCh38 |
| NC_000003.11:g.180349295C>T , CM000665.1:g.180349295C>T | GRCh37 |
| NC_000003.10:g.181831989C>T | NCBI36 |
| NG_029581.1:g.52989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1960G>A MANE Select | ENSP00000417960.2:p.Gly654Arg | |
| ENST00000650641.1:n.1847G>A | ||
| ENST00000651046.1:c.1768G>A | ENSP00000499175.1:p.Gly590Arg | |
| ENST00000651922.1:n.1285G>A | ||
| ENST00000652408.1:n.2097G>A | ||
| ENST00000442201.6:c.1960G>A | ENSP00000405708.2:p.Gly654Arg | |
| ENST00000476379.5:c.1960G>A | ENSP00000417960.1:p.Gly654Arg | |
| NM_181426.1:c.1960G>A | NP_852091.1:p.Gly654Arg | |
| NM_181426.2:c.1960G>A MANE Select | NP_852091.1:p.Gly654Arg |