Linked Data
ClinVar Variation Id:
1595342
ClinVar RCV Id:
RCV002109550
dbSNP Id:
rs751279819
ExAC:
17:68172062 C / T
gnomAD v2:
17-68172062-C-T
gnomAD v3:
17-70175921-C-T
gnomAD v4:
17-70175921-C-T
COSMIC:
COSM4069099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175921C>T , CM000679.2:g.70175921C>T | GRCh38 |
| NC_000017.10:g.68172062C>T , CM000679.1:g.68172062C>T | GRCh37 |
| NC_000017.9:g.65683657C>T | NCBI36 |
| NG_008798.1:g.11387C>T , LRG_328:g.11387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.882C>T MANE Select | ENSP00000243457.2:p.Ile294= | |
| ENST00000243457.3:c.882C>T | ENSP00000243457.2:p.Ile294= | |
| ENST00000535240.1:c.882C>T | ENSP00000441848.1:p.Ile294= | |
| NM_000891.2:c.882C>T , LRG_328t1:c.882C>T | NP_000882.1:p.Ile294= | |
| XM_011524779.1:c.882C>T | XP_011523081.1:p.Ile294= | |
| NM_000891.3:c.882C>T MANE Select | NP_000882.1:p.Ile294= |