Linked Data
ClinVar Variation Id:
195603
dbSNP Id:
rs139043074
ExAC:
1:183209311 C / T
gnomAD v2:
1-183209311-C-T
gnomAD v3:
1-183240176-C-T
gnomAD v4:
1-183240176-C-T
COSMIC:
COSM900792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183240176C>T , CM000663.2:g.183240176C>T | GRCh38 |
| NC_000001.10:g.183209311C>T , CM000663.1:g.183209311C>T | GRCh37 |
| NC_000001.9:g.181475934C>T | NCBI36 |
| NG_007079.2:g.58913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.3206C>T MANE Select | ENSP00000264144.4:p.Thr1069Met | |
| ENST00000264144.4:c.3206C>T | ENSP00000264144.4:p.Thr1069Met | |
| ENST00000461729.1:n.676C>T | ||
| ENST00000493293.5:c.3206C>T | ENSP00000432063.1:p.Thr1069Met | |
| NM_005562.2:c.3206C>T | NP_005553.2:p.Thr1069Met | |
| NM_018891.2:c.3206C>T | NP_061486.2:p.Thr1069Met | |
| NM_005562.3:c.3206C>T MANE Select | NP_005553.2:p.Thr1069Met | |
| NM_018891.3:c.3206C>T | NP_061486.2:p.Thr1069Met |