Linked Data
ClinVar Variation Id:
128930
ClinVar RCV Id:
RCV000116910
RCV000233457
RCV001109550
RCV001174052
RCV001719861
RCV002381424
RCV003964979
dbSNP Id:
rs149300055
ExAC:
14:102514328 C / T
gnomAD v2:
14-102514328-C-T
gnomAD v3:
14-102047991-C-T
gnomAD v4:
14-102047991-C-T
COSMIC:
COSM252483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102047991C>T , CM000676.2:g.102047991C>T | GRCh38 |
| NC_000014.8:g.102514328C>T , CM000676.1:g.102514328C>T | GRCh37 |
| NC_000014.7:g.101584081C>T | NCBI36 |
| NG_008777.1:g.88464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4640C>T | ENSP00000506816.1:n.*4640C>T | |
| ENST00000360184.10:c.13181C>T MANE Select | ENSP00000348965.4:p.Thr4394Met | |
| ENST00000553701.1:n.346+2454G>A | ||
| ENST00000555062.2:n.254C>T | ||
| ENST00000556229.2:n.574C>T | ||
| ENST00000557242.1:n.328+4536G>A | ||
| ENST00000643437.1:n.3135C>T | ||
| ENST00000643591.1:n.974C>T | ||
| ENST00000643729.1:n.327C>T | ||
| ENST00000643829.1:n.3137C>T | ||
| ENST00000644239.2:n.1317C>T | ||
| ENST00000644794.1:n.3300C>T | ||
| ENST00000644881.2:c.13181C>T | ENSP00000495022.2:p.Thr4394Met | |
| ENST00000645039.2:c.*1032C>T | ENSP00000495220.2:n.*1032C>T | |
| ENST00000645085.1:n.1427C>T | ||
| ENST00000645149.2:c.13034C>T | ENSP00000495944.2:p.Thr4345Met | |
| ENST00000647143.1:n.329C>T | ||
| ENST00000647204.2:n.2517C>T | ||
| ENST00000647366.1:n.6735C>T | ||
| ENST00000679720.1:c.13181C>T | ENSP00000505938.1:p.Thr4394Met | |
| ENST00000679910.1:c.*4263C>T | ENSP00000506521.1:n.*4263C>T | |
| ENST00000680120.1:c.13181C>T | ENSP00000504863.1:p.Thr4394Met | |
| ENST00000680178.1:n.253C>T | ||
| ENST00000680200.1:c.*2440C>T | ENSP00000506166.1:n.*2440C>T | |
| ENST00000680313.1:c.13181C>T | ENSP00000506208.1:p.Thr4394Met | |
| ENST00000680423.1:c.*4912C>T | ENSP00000505483.1:n.*4912C>T | |
| ENST00000680715.1:c.*471C>T | ENSP00000505332.1:n.*471C>T | |
| ENST00000681066.1:c.*1204C>T | ENSP00000506344.1:n.*1204C>T | |
| ENST00000681283.1:c.*1893C>T | ENSP00000505667.1:n.*1893C>T | |
| ENST00000681536.1:c.*6380C>T | ENSP00000505821.1:n.*6380C>T | |
| ENST00000681574.1:c.13181C>T | ENSP00000505523.1:p.Thr4394Met | |
| ENST00000681822.1:c.13181C>T | ENSP00000505744.1:p.Thr4394Met | |
| ENST00000360184.8:c.13181C>T | ENSP00000348965.4:p.Thr4394Met | |
| ENST00000555062.1:n.231C>T | ||
| ENST00000556229.1:n.331C>T | ||
| NM_001376.4:c.13181C>T | NP_001367.2:p.Thr4394Met | |
| NM_001376.5:c.13181C>T MANE Select | NP_001367.2:p.Thr4394Met |