Linked Data
ClinVar Variation Id:
162491
ClinVar RCV Id:
RCV000149874
dbSNP Id:
rs727502811
ExAC:
9:132576387 C / T
gnomAD v2:
9-132576387-C-T
gnomAD v3:
9-129814108-C-T
gnomAD v4:
9-129814108-C-T
COSMIC:
COSM285871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814108C>T , CM000671.2:g.129814108C>T | GRCh38 |
| NC_000009.11:g.132576387C>T , CM000671.1:g.132576387C>T | GRCh37 |
| NC_000009.10:g.131616208C>T | NCBI36 |
| NG_008049.1:g.15055G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.863G>A MANE Select | ENSP00000345719.4:p.Arg288Gln | |
| ENST00000651202.1:c.*131G>A | ENSP00000498222.1:n.*131G>A | |
| ENST00000351698.4:c.863G>A | ENSP00000345719.4:p.Arg288Gln | |
| ENST00000474192.1:n.447G>A | ||
| NM_000113.2:c.863G>A | NP_000104.1:p.Arg288Gln | |
| XR_929731.1:n.1190G>A | ||
| XR_929731.3:n.1058G>A | ||
| NM_000113.3:c.863G>A MANE Select | NP_000104.1:p.Arg288Gln |