Linked Data
ClinVar Variation Id:
282123
dbSNP Id:
rs749647281
ExAC:
14:102509022 G / A
gnomAD v2:
14-102509022-G-A
gnomAD v3:
14-102042685-G-A
gnomAD v4:
14-102042685-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102042685G>A , CM000676.2:g.102042685G>A | GRCh38 |
| NC_000014.8:g.102509022G>A , CM000676.1:g.102509022G>A | GRCh37 |
| NC_000014.7:g.101578775G>A | NCBI36 |
| NG_008777.1:g.83158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3909G>A | ENSP00000506816.1:n.*3909G>A | |
| ENST00000360184.10:c.12450G>A MANE Select | ENSP00000348965.4:p.Pro4150= | |
| ENST00000553701.1:n.347-5916C>T | ||
| ENST00000557242.1:n.329-5916C>T | ||
| ENST00000557551.1:n.111+1608C>T | ||
| ENST00000643437.1:n.2404G>A | ||
| ENST00000643591.1:n.243G>A | ||
| ENST00000643829.1:n.2406G>A | ||
| ENST00000644239.2:n.586G>A | ||
| ENST00000644794.1:n.2569G>A | ||
| ENST00000644881.2:c.12450G>A | ENSP00000495022.2:p.Pro4150= | |
| ENST00000644888.1:n.923G>A | ||
| ENST00000645039.2:c.*301G>A | ENSP00000495220.2:n.*301G>A | |
| ENST00000645085.1:n.696G>A | ||
| ENST00000645149.2:c.12303G>A | ENSP00000495944.2:p.Pro4101= | |
| ENST00000645697.1:n.3113G>A | ||
| ENST00000647204.2:n.1786G>A | ||
| ENST00000647366.1:n.6004G>A | ||
| ENST00000679486.1:c.12450G>A | ENSP00000506688.1:p.Pro4150= | |
| ENST00000679720.1:c.12450G>A | ENSP00000505938.1:p.Pro4150= | |
| ENST00000679910.1:c.*3532G>A | ENSP00000506521.1:n.*3532G>A | |
| ENST00000680120.1:c.12450G>A | ENSP00000504863.1:p.Pro4150= | |
| ENST00000680200.1:c.*1709G>A | ENSP00000506166.1:n.*1709G>A | |
| ENST00000680313.1:c.12450G>A | ENSP00000506208.1:p.Pro4150= | |
| ENST00000680423.1:c.*4181G>A | ENSP00000505483.1:n.*4181G>A | |
| ENST00000680715.1:c.12450G>A | ENSP00000505332.1:p.Pro4150= | |
| ENST00000681010.1:c.12450G>A | ENSP00000505201.1:p.Pro4150= | |
| ENST00000681066.1:c.*473G>A | ENSP00000506344.1:n.*473G>A | |
| ENST00000681283.1:c.*1162G>A | ENSP00000505667.1:n.*1162G>A | |
| ENST00000681536.1:c.*5649G>A | ENSP00000505821.1:n.*5649G>A | |
| ENST00000681574.1:c.12450G>A | ENSP00000505523.1:p.Pro4150= | |
| ENST00000681822.1:c.12450G>A | ENSP00000505744.1:p.Pro4150= | |
| ENST00000360184.8:c.12450G>A | ENSP00000348965.4:p.Pro4150= | |
| ENST00000555102.1:n.162G>A | ||
| NM_001376.4:c.12450G>A | NP_001367.2:p.Pro4150= | |
| NM_001376.5:c.12450G>A MANE Select | NP_001367.2:p.Pro4150= |