Linked Data
ClinVar Variation Id:
5502
dbSNP Id:
rs137853146
ExAC:
5:178699927 G / A
gnomAD v2:
5-178699927-G-A
gnomAD v3:
5-179272926-G-A
gnomAD v4:
5-179272926-G-A
COSMIC:
COSM1672178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179272926G>A , CM000667.2:g.179272926G>A | GRCh38 |
| NC_000005.9:g.178699927G>A , CM000667.1:g.178699927G>A | GRCh37 |
| NC_000005.8:g.178632533G>A | NCBI36 |
| NG_023212.2:g.77403C>T | |
| NG_023212.3:g.77403C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698889.1:c.673C>T | ENSP00000514008.1:p.Gln225Ter | |
| ENST00000251582.12:c.673C>T MANE Select | ENSP00000251582.7:p.Gln225Ter | |
| ENST00000518335.3:c.673C>T | ENSP00000489888.2:p.Gln225Ter | |
| ENST00000251582.11:c.673C>T | ENSP00000251582.7:p.Gln225Ter | |
| ENST00000274609.5:c.673C>T | ENSP00000274609.5:p.Gln225Ter | |
| NM_014244.4:c.673C>T | NP_055059.2:p.Gln225Ter | |
| NM_021599.2:c.673C>T | NP_067610.1:p.Gln225Ter | |
| NM_021599.3:c.673C>T | NP_067610.1:p.Gln225Ter | |
| NM_014244.5:c.673C>T MANE Select | NP_055059.2:p.Gln225Ter | |
| NM_021599.4:c.673C>T | NP_067610.1:p.Gln225Ter |