Linked Data
ClinVar Variation Id:
198116
dbSNP Id:
rs191125006
ExAC:
2:202498081 C / T
gnomAD v2:
2-202498081-C-T
gnomAD v3:
2-201633358-C-T
gnomAD v4:
2-201633358-C-T
COSMIC:
COSM1404515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201633358C>T , CM000664.2:g.201633358C>T | GRCh38 |
| NC_000002.11:g.202498081C>T , CM000664.1:g.202498081C>T | GRCh37 |
| NC_000002.10:g.202206326C>T | NCBI36 |
| NG_032049.1:g.15172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.238G>A | ||
| ENST00000621467.5:c.222G>A | ENSP00000480508.2:p.Ala74= | |
| ENST00000686475.1:n.184G>A | ||
| ENST00000409883.7:c.348G>A MANE Select | ENSP00000386264.2:p.Ala116= | |
| ENST00000286196.9:c.269G>A | ENSP00000286196.5:p.Arg90Gln | |
| ENST00000409444.6:c.324G>A | ENSP00000387203.2:p.Ala108= | |
| ENST00000409883.6:c.348G>A | ENSP00000386264.2:p.Ala116= | |
| ENST00000432684.6:c.*147G>A | ENSP00000413230.2:n.*147G>A | |
| ENST00000444047.6:c.*158G>A | ENSP00000402681.2:n.*158G>A | |
| ENST00000466641.5:n.46G>A | ||
| ENST00000489550.5:n.451G>A | ||
| ENST00000621467.4:c.324G>A | ENSP00000480508.1:p.Ala108= | |
| NM_001044385.2:c.348G>A | NP_001037850.1:p.Ala116= | |
| NM_152388.3:c.324G>A | NP_689601.2:p.Ala108= | |
| NM_001044385.3:c.348G>A MANE Select | NP_001037850.1:p.Ala116= | |
| NM_152388.4:c.324G>A | NP_689601.2:p.Ala108= |