Linked Data
ClinVar Variation Id:
180395
ClinVar RCV Id:
RCV000157282
dbSNP Id:
rs730880125
ExAC:
3:49162353 G / A
gnomAD v2:
3-49162353-G-A
gnomAD v3:
3-49124920-G-A
gnomAD v4:
3-49124920-G-A
COSMIC:
COSM4628217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124920G>A , CM000665.2:g.49124920G>A | GRCh38 |
| NC_000003.11:g.49162353G>A , CM000665.1:g.49162353G>A | GRCh37 |
| NC_000003.10:g.49137357G>A | NCBI36 |
| NG_008094.1:g.13247C>T | |
| NG_054716.1:g.1019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2890C>T MANE Select | ENSP00000307156.4:p.Arg964Ter | |
| ENST00000305544.8:c.2890C>T | ENSP00000307156.4:p.Arg964Ter | |
| ENST00000418109.5:c.2890C>T | ENSP00000388325.1:p.Arg964Ter | |
| ENST00000462930.5:n.297C>T | ||
| ENST00000464891.5:n.623C>T | ||
| ENST00000483057.1:n.490C>T | ||
| ENST00000542580.1:n.205C>T | ||
| NM_002292.3:c.2890C>T | NP_002283.3:p.Arg964Ter | |
| XM_005265127.3:c.2890C>T | XP_005265184.1:p.Arg964Ter | |
| XM_005265127.4:c.2890C>T | XP_005265184.1:p.Arg964Ter | |
| NM_002292.4:c.2890C>T MANE Select | NP_002283.3:p.Arg964Ter |