Linked Data
ClinVar Variation Id:
1342212
ClinVar RCV Id:
RCV001838879
dbSNP Id:
rs4461452
ExAC:
3:119236017 G / T
gnomAD v2:
3-119236017-G-T
gnomAD v3:
3-119517170-G-T
gnomAD v4:
3-119517170-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119517170G>T , CM000665.2:g.119517170G>T | GRCh38 |
| NC_000003.11:g.119236017G>T , CM000665.1:g.119236017G>T | GRCh37 |
| NC_000003.10:g.120718707G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494664.6:c.597-35G>T MANE Select | ENSP00000418803.1:n.597-35G>T | |
| ENST00000264244.7:c.518-35G>T | ENSP00000264244.3:n.518-35G>T | |
| ENST00000463927.6:c.*178-35G>T | ENSP00000417205.2:n.*178-35G>T | |
| ENST00000466984.1:c.342-35G>T | ENSP00000420122.1:n.342-35G>T | |
| ENST00000486418.5:c.*58-35G>T | ENSP00000417083.1:n.*58-35G>T | |
| ENST00000492164.5:c.*158-35G>T | ENSP00000418846.1:n.*158-35G>T | |
| ENST00000493694.1:c.195-35G>T | ENSP00000419510.1:n.195-35G>T | |
| ENST00000494664.5:c.597-35G>T | ENSP00000418803.1:n.597-35G>T | |
| ENST00000498399.1:c.118-35G>T | ||
| NM_016589.3:c.597-35G>T | NP_057673.2:n.597-35G>T | |
| XM_017006556.1:c.195-35G>T | XP_016862045.1:n.195-35G>T | |
| NM_016589.4:c.597-35G>T MANE Select | NP_057673.2:n.597-35G>T |