Linked Data
ClinVar Variation Id:
3004915
ClinVar RCV Id:
RCV003861018
dbSNP Id:
rs770353879
ExAC:
3:147131158 G / T
gnomAD v2:
3-147131158-G-T
gnomAD v4:
3-147413371-G-T
COSMIC:
COSM1632881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413371G>T , CM000665.2:g.147413371G>T | GRCh38 |
| NC_000003.11:g.147131158G>T , CM000665.1:g.147131158G>T | GRCh37 |
| NC_000003.10:g.148613848G>T | NCBI36 |
| NG_015886.1:g.8978G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1164G>T MANE Select | ENSP00000282928.4:p.Ser388= | |
| ENST00000282928.4:c.1164G>T | ENSP00000282928.4:p.Ser388= | |
| ENST00000472523.1:n.521+19429G>T | ||
| ENST00000488404.5:c.230G>T | ||
| NM_003412.3:c.1164G>T | NP_003403.2:p.Ser388= | |
| NM_003412.4:c.1164G>T MANE Select | NP_003403.2:p.Ser388= |