Linked Data
ClinVar Variation Id:
508671
dbSNP Id:
rs531438720
ExAC:
14:102495938 G / A
gnomAD v2:
14-102495938-G-A
gnomAD v3:
14-102029601-G-A
gnomAD v4:
14-102029601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102029601G>A , CM000676.2:g.102029601G>A | GRCh38 |
| NC_000014.8:g.102495938G>A , CM000676.1:g.102495938G>A | GRCh37 |
| NC_000014.7:g.101565691G>A | NCBI36 |
| NG_008777.1:g.70074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*990G>A | ENSP00000506816.1:n.*990G>A | |
| ENST00000360184.10:c.9531G>A MANE Select | ENSP00000348965.4:p.Leu3177= | |
| ENST00000642882.1:n.1330G>A | ||
| ENST00000643508.2:c.9531G>A | ENSP00000495528.2:p.Leu3177= | |
| ENST00000644881.2:c.9531G>A | ENSP00000495022.2:p.Leu3177= | |
| ENST00000645039.2:c.9531G>A | ENSP00000495220.2:p.Leu3177= | |
| ENST00000645149.2:c.9531G>A | ENSP00000495944.2:p.Leu3177= | |
| ENST00000645697.1:n.194G>A | ||
| ENST00000647366.1:n.3085G>A | ||
| ENST00000679486.1:c.9531G>A | ENSP00000506688.1:p.Leu3177= | |
| ENST00000679629.1:c.9531G>A | ENSP00000505589.1:p.Leu3177= | |
| ENST00000679720.1:c.9531G>A | ENSP00000505938.1:p.Leu3177= | |
| ENST00000679910.1:c.*613G>A | ENSP00000506521.1:n.*613G>A | |
| ENST00000680120.1:c.9531G>A | ENSP00000504863.1:p.Leu3177= | |
| ENST00000680137.1:c.9531G>A | ENSP00000505294.1:p.Leu3177= | |
| ENST00000680200.1:c.9531G>A | ENSP00000506166.1:p.Leu3177= | |
| ENST00000680313.1:c.9531G>A | ENSP00000506208.1:p.Leu3177= | |
| ENST00000680423.1:c.*1262G>A | ENSP00000505483.1:n.*1262G>A | |
| ENST00000680715.1:c.9531G>A | ENSP00000505332.1:p.Leu3177= | |
| ENST00000680874.1:c.9531G>A | ENSP00000504911.1:p.Leu3177= | |
| ENST00000681010.1:c.9531G>A | ENSP00000505201.1:p.Leu3177= | |
| ENST00000681066.1:c.9531G>A | ENSP00000506344.1:p.Leu3177= | |
| ENST00000681123.1:c.9531G>A | ENSP00000506124.1:p.Leu3177= | |
| ENST00000681283.1:c.9531G>A | ENSP00000505667.1:p.Leu3177= | |
| ENST00000681536.1:c.*2730G>A | ENSP00000505821.1:n.*2730G>A | |
| ENST00000681574.1:c.9531G>A | ENSP00000505523.1:p.Leu3177= | |
| ENST00000681822.1:c.9531G>A | ENSP00000505744.1:p.Leu3177= | |
| ENST00000360184.8:c.9531G>A | ENSP00000348965.4:p.Leu3177= | |
| ENST00000554854.1:n.595G>A | ||
| NM_001376.4:c.9531G>A | NP_001367.2:p.Leu3177= | |
| NM_001376.5:c.9531G>A MANE Select | NP_001367.2:p.Leu3177= |