Linked Data
ClinVar Variation Id:
434996
dbSNP Id:
rs867293260
gnomAD v2:
14-102506667-G-A
gnomAD v3:
14-102040330-G-A
gnomAD v4:
14-102040330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102040330G>A , CM000676.2:g.102040330G>A | GRCh38 |
| NC_000014.8:g.102506667G>A , CM000676.1:g.102506667G>A | GRCh37 |
| NC_000014.7:g.101576420G>A | NCBI36 |
| NG_008777.1:g.80803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3244G>A | ENSP00000506816.1:n.*3244G>A | |
| ENST00000360184.10:c.11785G>A MANE Select | ENSP00000348965.4:p.Val3929Met | |
| ENST00000553701.1:n.347-3561C>T | ||
| ENST00000556139.2:n.337G>A | ||
| ENST00000556499.3:n.18G>A | ||
| ENST00000557242.1:n.329-3561C>T | ||
| ENST00000557551.1:n.112-3561C>T | ||
| ENST00000643437.1:n.1739G>A | ||
| ENST00000643829.1:n.1614G>A | ||
| ENST00000644794.1:n.1904G>A | ||
| ENST00000644881.2:c.11785G>A | ENSP00000495022.2:p.Val3929Met | |
| ENST00000645039.2:c.11690+598G>A | ENSP00000495220.2:n.11690+598G>A | |
| ENST00000645085.1:n.187+598G>A | ||
| ENST00000645149.2:c.11638G>A | ENSP00000495944.2:p.Val3880Met | |
| ENST00000645697.1:n.2448G>A | ||
| ENST00000647204.2:n.1026G>A | ||
| ENST00000647366.1:n.5339G>A | ||
| ENST00000679486.1:c.11785G>A | ENSP00000506688.1:p.Val3929Met | |
| ENST00000679629.1:c.11691-268G>A | ENSP00000505589.1:n.11691-268G>A | |
| ENST00000679720.1:c.11785G>A | ENSP00000505938.1:p.Val3929Met | |
| ENST00000679910.1:c.*2867G>A | ENSP00000506521.1:n.*2867G>A | |
| ENST00000680120.1:c.11785G>A | ENSP00000504863.1:p.Val3929Met | |
| ENST00000680200.1:c.*1044G>A | ENSP00000506166.1:n.*1044G>A | |
| ENST00000680313.1:c.11785G>A | ENSP00000506208.1:p.Val3929Met | |
| ENST00000680423.1:c.*3516G>A | ENSP00000505483.1:n.*3516G>A | |
| ENST00000680715.1:c.11785G>A | ENSP00000505332.1:p.Val3929Met | |
| ENST00000681010.1:c.11785G>A | ENSP00000505201.1:p.Val3929Met | |
| ENST00000681066.1:c.11785G>A | ENSP00000506344.1:p.Val3929Met | |
| ENST00000681123.1:c.11785G>A | ENSP00000506124.1:p.Val3929Met | |
| ENST00000681283.1:c.*497G>A | ENSP00000505667.1:n.*497G>A | |
| ENST00000681536.1:c.*4984G>A | ENSP00000505821.1:n.*4984G>A | |
| ENST00000681574.1:c.11785G>A | ENSP00000505523.1:p.Val3929Met | |
| ENST00000681822.1:c.11785G>A | ENSP00000505744.1:p.Val3929Met | |
| ENST00000360184.8:c.11785G>A | ENSP00000348965.4:p.Val3929Met | |
| ENST00000556139.1:n.337G>A | ||
| NM_001376.4:c.11785G>A | NP_001367.2:p.Val3929Met | |
| NM_001376.5:c.11785G>A MANE Select | NP_001367.2:p.Val3929Met |