Linked Data
ClinVar Variation Id:
3068201
ClinVar RCV Id:
RCV003991881
dbSNP Id:
rs1013032115
gnomAD v3:
5-135028900-C-T
gnomAD v4:
5-135028900-C-T
COSMIC:
COSM5633375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028900C>T , CM000667.2:g.135028900C>T | GRCh38 |
| NC_000005.9:g.134364590C>T , CM000667.1:g.134364590C>T | GRCh37 |
| NC_000005.8:g.134392489C>T | NCBI36 |
| NG_012114.1:g.10375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.824G>A MANE Select | ENSP00000265340.6:p.Arg275Gln | |
| ENST00000265340.11:c.824G>A | ENSP00000265340.6:p.Arg275Gln | |
| ENST00000506438.5:c.824G>A | ENSP00000427542.1:p.Arg275Gln | |
| NM_002653.4:c.824G>A | NP_002644.4:p.Arg275Gln | |
| NM_002653.5:c.824G>A MANE Select | NP_002644.4:p.Arg275Gln |