Linked Data
ClinVar Variation Id:
210887
dbSNP Id:
rs34338935
ExAC:
14:102494045 G / T
gnomAD v2:
14-102494045-G-T
gnomAD v3:
14-102027708-G-T
gnomAD v4:
14-102027708-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102027708G>T , CM000676.2:g.102027708G>T | GRCh38 |
| NC_000014.8:g.102494045G>T , CM000676.1:g.102494045G>T | GRCh37 |
| NC_000014.7:g.101563798G>T | NCBI36 |
| NG_008777.1:g.68181G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*597G>T | ENSP00000506816.1:n.*597G>T | |
| ENST00000360184.10:c.9138G>T MANE Select | ENSP00000348965.4:p.Ser3046= | |
| ENST00000643508.2:c.9138G>T | ENSP00000495528.2:p.Ser3046= | |
| ENST00000644881.2:c.9138G>T | ENSP00000495022.2:p.Ser3046= | |
| ENST00000645039.2:c.9138G>T | ENSP00000495220.2:p.Ser3046= | |
| ENST00000645149.2:c.9138G>T | ENSP00000495944.2:p.Ser3046= | |
| ENST00000647366.1:n.2692G>T | ||
| ENST00000679486.1:c.9138G>T | ENSP00000506688.1:p.Ser3046= | |
| ENST00000679629.1:c.9138G>T | ENSP00000505589.1:p.Ser3046= | |
| ENST00000679720.1:c.9138G>T | ENSP00000505938.1:p.Ser3046= | |
| ENST00000679910.1:c.*220G>T | ENSP00000506521.1:n.*220G>T | |
| ENST00000680120.1:c.9138G>T | ENSP00000504863.1:p.Ser3046= | |
| ENST00000680137.1:c.9138G>T | ENSP00000505294.1:p.Ser3046= | |
| ENST00000680200.1:c.9138G>T | ENSP00000506166.1:p.Ser3046= | |
| ENST00000680313.1:c.9138G>T | ENSP00000506208.1:p.Ser3046= | |
| ENST00000680423.1:c.*869G>T | ENSP00000505483.1:n.*869G>T | |
| ENST00000680715.1:c.9138G>T | ENSP00000505332.1:p.Ser3046= | |
| ENST00000680808.1:c.*197G>T | ENSP00000506446.1:n.*197G>T | |
| ENST00000680874.1:c.9138G>T | ENSP00000504911.1:p.Ser3046= | |
| ENST00000681010.1:c.9138G>T | ENSP00000505201.1:p.Ser3046= | |
| ENST00000681066.1:c.9138G>T | ENSP00000506344.1:p.Ser3046= | |
| ENST00000681123.1:c.9138G>T | ENSP00000506124.1:p.Ser3046= | |
| ENST00000681283.1:c.9138G>T | ENSP00000505667.1:p.Ser3046= | |
| ENST00000681311.1:c.*611G>T | ENSP00000505519.1:n.*611G>T | |
| ENST00000681536.1:c.*2337G>T | ENSP00000505821.1:n.*2337G>T | |
| ENST00000681574.1:c.9138G>T | ENSP00000505523.1:p.Ser3046= | |
| ENST00000681822.1:c.9138G>T | ENSP00000505744.1:p.Ser3046= | |
| ENST00000360184.8:c.9138G>T | ENSP00000348965.4:p.Ser3046= | |
| ENST00000554854.1:n.202G>T | ||
| NM_001376.4:c.9138G>T | NP_001367.2:p.Ser3046= | |
| NM_001376.5:c.9138G>T MANE Select | NP_001367.2:p.Ser3046= |