Linked Data
ClinVar Variation Id:
161715
ClinVar RCV Id:
RCV000149251
dbSNP Id:
rs142395337
ExAC:
8:37704631 C / T
gnomAD v2:
8-37704631-C-T
gnomAD v3:
8-37847113-C-T
gnomAD v4:
8-37847113-C-T
COSMIC:
COSM1178264
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37847113C>T , CM000670.2:g.37847113C>T | GRCh38 |
| NC_000008.10:g.37704631C>T , CM000670.1:g.37704631C>T | GRCh37 |
| NC_000008.9:g.37823789C>T | NCBI36 |
| NG_046965.1:g.7801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220659.11:c.277G>A MANE Select | ENSP00000220659.6:p.Ala93Thr | |
| ENST00000220659.10:c.277G>A | ENSP00000220659.6:p.Ala93Thr | |
| ENST00000520601.5:c.277G>A | ENSP00000430107.1:p.Ala93Thr | |
| ENST00000521170.5:c.*97G>A | ENSP00000430193.1:n.*97G>A | |
| ENST00000522539.1:c.*126G>A | ENSP00000429554.1:n.*126G>A | |
| NM_018310.3:c.277G>A | NP_060780.2:p.Ala93Thr | |
| NM_018310.4:c.277G>A MANE Select | NP_060780.2:p.Ala93Thr |