Linked Data
ClinVar Variation Id:
946703
ClinVar RCV Id:
RCV001217619
dbSNP Id:
rs112673051
ExAC:
3:15512106 T / C
gnomAD v2:
3-15512106-T-C
gnomAD v3:
3-15470599-T-C
gnomAD v4:
3-15470599-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470599T>C , CM000665.2:g.15470599T>C | GRCh38 |
| NC_000003.11:g.15512106T>C , CM000665.1:g.15512106T>C | GRCh37 |
| NC_000003.10:g.15487110T>C | NCBI36 |
| NG_009032.1:g.56153A>G | |
| NG_009032.2:g.56153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.654A>G MANE Select | ENSP00000373298.3:p.Lys218= | |
| ENST00000604401.2:n.650A>G | ||
| ENST00000679838.1:c.*416A>G | ENSP00000505708.1:n.*416A>G | |
| ENST00000680545.1:n.420A>G | ||
| ENST00000681097.1:c.654A>G | ENSP00000505397.1:p.Lys218= | |
| ENST00000383781.8:c.624A>G | ENSP00000373291.3:p.Lys208= | |
| ENST00000383786.9:c.552A>G | ENSP00000373296.3:p.Lys184= | |
| ENST00000383788.9:c.654A>G | ENSP00000373298.3:p.Lys218= | |
| ENST00000603808.5:c.654A>G | ENSP00000474271.1:p.Lys218= | |
| ENST00000605797.1:c.483A>G | ENSP00000474936.1:p.Lys161= | |
| NM_005677.3:c.654A>G | NP_005668.2:p.Lys218= | |
| NM_080538.2:c.624A>G | NP_536799.1:p.Lys208= | |
| NM_080539.3:c.552A>G | NP_536800.2:p.Lys184= | |
| NM_005677.4:c.654A>G MANE Select | NP_005668.2:p.Lys218= | |
| NM_080539.4:c.552A>G | NP_536800.2:p.Lys184= |