Linked Data
dbSNP Id:
rs1297408431
gnomAD v2:
6-52344569-G-T
gnomAD v3:
6-52479771-G-T
gnomAD v4:
6-52479771-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479771G>T , CM000668.2:g.52479771G>T | GRCh38 |
| NC_000006.11:g.52344569G>T , CM000668.1:g.52344569G>T | GRCh37 |
| NC_000006.10:g.52452528G>T | NCBI36 |
| NG_016760.1:g.64576G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1624G>T MANE Select | ENSP00000360107.4:p.Ala542Ser | |
| ENST00000480623.6:c.1624G>T | ENSP00000434498.2:p.Ala542Ser | |
| ENST00000635760.1:c.1300G>T | ENSP00000489765.1:p.Ala434Ser | |
| ENST00000635812.1:c.*925G>T | ENSP00000490859.1:n.*925G>T | |
| ENST00000635866.1:c.*1493G>T | ENSP00000489866.1:n.*1493G>T | |
| ENST00000635911.1:n.3142G>T | ||
| ENST00000635984.1:c.1300G>T | ENSP00000489921.1:p.Ala434Ser | |
| ENST00000635996.1:c.1624G>T | ENSP00000490256.1:p.Ala542Ser | |
| ENST00000636107.1:c.1624G>T | ENSP00000489680.1:p.Ala542Ser | |
| ENST00000636311.1:n.1518G>T | ||
| ENST00000636343.1:c.1290G>T | ||
| ENST00000636379.1:c.1336G>T | ENSP00000490622.1:p.Ala446Ser | |
| ENST00000636398.1:c.1324G>T | ENSP00000489654.1:n.1324G>T | |
| ENST00000636489.1:c.1567G>T | ENSP00000489998.1:p.Ala523Ser | |
| ENST00000636616.1:n.1185G>T | ||
| ENST00000636702.1:c.1594G>T | ENSP00000489623.1:p.Ala532Ser | |
| ENST00000636954.1:c.1567G>T | ENSP00000489966.1:p.Ala523Ser | |
| ENST00000637089.1:c.1624G>T | ENSP00000489854.1:p.Ala542Ser | |
| ENST00000637121.1:n.1426G>T | ||
| ENST00000637263.1:c.1624G>T | ENSP00000489700.1:p.Ala542Ser | |
| ENST00000637340.1:n.3549G>T | ||
| ENST00000637353.1:c.1624G>T | ENSP00000490441.1:p.Ala542Ser | |
| ENST00000637602.1:c.*1325G>T | ENSP00000490074.1:n.*1325G>T | |
| ENST00000637849.1:n.1688G>T | ||
| ENST00000637892.1:n.1828G>T | ||
| ENST00000371068.9:c.1624G>T | ENSP00000360107.4:p.Ala542Ser | |
| ENST00000480623.5:c.*2044G>T | ENSP00000434498.1:n.*2044G>T | |
| ENST00000538167.2:c.1567G>T | ENSP00000444521.1:p.Ala523Ser | |
| NM_001172420.1:c.1567G>T | NP_001165891.1:p.Ala523Ser | |
| NM_018100.3:c.1624G>T | NP_060570.2:p.Ala542Ser | |
| NR_033327.1:n.3096G>T | ||
| NM_018100.4:c.1624G>T MANE Select | NP_060570.2:p.Ala542Ser | |
| NM_001172420.2:c.1567G>T | NP_001165891.1:p.Ala523Ser | |
| NR_033327.2:n.2950G>T |