Linked Data
dbSNP Id:
rs747412511
ExAC:
17:61574163 G / A
gnomAD v2:
17-61574163-G-A
gnomAD v3:
17-63496802-G-A
gnomAD v4:
17-63496802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496802G>A , CM000679.2:g.63496802G>A | GRCh38 |
| NC_000017.10:g.61574163G>A , CM000679.1:g.61574163G>A | GRCh37 |
| NC_000017.9:g.58927895G>A | NCBI36 |
| NG_011648.1:g.24730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3508G>A MANE Select | ENSP00000290866.4:p.Ala1170Thr | |
| ENST00000290863.10:c.1786G>A | ENSP00000290863.6:p.Ala596Thr | |
| ENST00000290866.9:c.3508G>A | ENSP00000290866.4:p.Ala1170Thr | |
| ENST00000413513.7:c.1663G>A | ENSP00000392247.3:p.Ala555Thr | |
| ENST00000428043.5:c.3508G>A | ENSP00000397593.2:p.Ala1170Thr | |
| ENST00000577418.5:n.518G>A | ||
| ENST00000577647.2:c.1786G>A | ENSP00000464149.1:p.Ala596Thr | |
| ENST00000578839.5:c.*1263G>A | ENSP00000462110.2:n.*1263G>A | |
| ENST00000579314.5:c.*1237G>A | ENSP00000462599.1:n.*1237G>A | |
| ENST00000579409.1:c.195G>A | ||
| ENST00000582244.1:n.382G>A | ||
| NM_000789.3:c.3508G>A | NP_000780.1:p.Ala1170Thr | |
| NM_001178057.1:c.1663G>A | NP_001171528.1:p.Ala555Thr | |
| NM_152830.2:c.1786G>A | NP_690043.1:p.Ala596Thr | |
| XM_005257110.1:c.2959G>A | XP_005257167.1:p.Ala987Thr | |
| XM_006721737.2:c.1846G>A | XP_006721800.2:p.Ala616Thr | |
| XM_006721737.3:c.1846G>A | XP_006721800.2:p.Ala616Thr | |
| NM_000789.4:c.3508G>A MANE Select | NP_000780.1:p.Ala1170Thr | |
| NM_001178057.2:c.1663G>A | NP_001171528.1:p.Ala555Thr | |
| NM_152830.3:c.1786G>A | NP_690043.1:p.Ala596Thr | |
| NM_001382700.1:c.2941G>A | NP_001369629.1:p.Ala981Thr | |
| NM_001382701.1:c.2656G>A | NP_001369630.1:p.Ala886Thr | |
| NM_001382702.1:c.1123G>A | NP_001369631.1:p.Ala375Thr | |
| NR_168483.1:n.1886G>A |