Linked Data
ClinVar Variation Id:
245797
dbSNP Id:
rs142883042
ExAC:
14:102514949 G / A
gnomAD v2:
14-102514949-G-A
gnomAD v3:
14-102048612-G-A
gnomAD v4:
14-102048612-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102048612G>A , CM000676.2:g.102048612G>A | GRCh38 |
| NC_000014.8:g.102514949G>A , CM000676.1:g.102514949G>A | GRCh37 |
| NC_000014.7:g.101584702G>A | NCBI36 |
| NG_008777.1:g.89085G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4774G>A | ENSP00000506816.1:n.*4774G>A | |
| ENST00000360184.10:c.13315G>A MANE Select | ENSP00000348965.4:p.Glu4439Lys | |
| ENST00000553701.1:n.346+1833C>T | ||
| ENST00000555062.2:n.388G>A | ||
| ENST00000556229.2:n.708G>A | ||
| ENST00000557242.1:n.328+3915C>T | ||
| ENST00000643437.1:n.3269G>A | ||
| ENST00000643591.1:n.1108G>A | ||
| ENST00000643729.1:n.948G>A | ||
| ENST00000643829.1:n.3271G>A | ||
| ENST00000644239.2:n.1451G>A | ||
| ENST00000644794.1:n.3921G>A | ||
| ENST00000644881.2:c.13315G>A | ENSP00000495022.2:p.Glu4439Lys | |
| ENST00000645039.2:c.*1166G>A | ENSP00000495220.2:n.*1166G>A | |
| ENST00000645085.1:n.1561G>A | ||
| ENST00000645149.2:c.13168G>A | ENSP00000495944.2:p.Glu4390Lys | |
| ENST00000647143.1:n.950G>A | ||
| ENST00000647204.2:n.2651G>A | ||
| ENST00000647366.1:n.6869G>A | ||
| ENST00000679720.1:c.13315G>A | ENSP00000505938.1:p.Glu4439Lys | |
| ENST00000679910.1:c.*4397G>A | ENSP00000506521.1:n.*4397G>A | |
| ENST00000680120.1:c.*74G>A | ENSP00000504863.1:n.*74G>A | |
| ENST00000680178.1:n.874G>A | ||
| ENST00000680200.1:c.*2574G>A | ENSP00000506166.1:n.*2574G>A | |
| ENST00000680313.1:c.13315G>A | ENSP00000506208.1:p.Glu4439Lys | |
| ENST00000680423.1:c.*5046G>A | ENSP00000505483.1:n.*5046G>A | |
| ENST00000680715.1:c.*605G>A | ENSP00000505332.1:n.*605G>A | |
| ENST00000681066.1:c.*1338G>A | ENSP00000506344.1:n.*1338G>A | |
| ENST00000681283.1:c.*2027G>A | ENSP00000505667.1:n.*2027G>A | |
| ENST00000681536.1:c.*6514G>A | ENSP00000505821.1:n.*6514G>A | |
| ENST00000681574.1:c.13315G>A | ENSP00000505523.1:p.Glu4439Lys | |
| ENST00000681822.1:c.13315G>A | ENSP00000505744.1:p.Glu4439Lys | |
| ENST00000360184.8:c.13315G>A | ENSP00000348965.4:p.Glu4439Lys | |
| ENST00000555062.1:n.365G>A | ||
| ENST00000556229.1:n.465G>A | ||
| NM_001376.4:c.13315G>A | NP_001367.2:p.Glu4439Lys | |
| NM_001376.5:c.13315G>A MANE Select | NP_001367.2:p.Glu4439Lys |