Linked Data
ClinVar Variation Id:
2472339
ClinVar RCV Id:
RCV004259889
dbSNP Id:
rs770083676
ExAC:
14:101349286 C / T
gnomAD v2:
14-101349286-C-T
gnomAD v4:
14-100882949-C-T
COSMIC:
COSM1300385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882949C>T , CM000676.2:g.100882949C>T | GRCh38 |
| NC_000014.8:g.101349286C>T , CM000676.1:g.101349286C>T | GRCh37 |
| NC_000014.7:g.100419039C>T | NCBI36 |
| NG_045001.1:g.6899G>A | |
| NG_045000.5:g.51681C>T | |
| NG_045000.6:g.51681C>T | |
| NG_045001.2:g.25774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1840G>A MANE Select | ENSP00000497482.1:p.Ala614Thr | |
| ENST00000534062.1:c.1840G>A | ENSP00000435342.1:p.Ala614Thr | |
| NM_001134888.2:c.1840G>A | NP_001128360.1:p.Ala614Thr | |
| NM_001134888.3:c.1840G>A MANE Select | NP_001128360.1:p.Ala614Thr |