Linked Data
dbSNP Id:
rs778534272
ExAC:
22:45689175 G / A
gnomAD v2:
22-45689175-G-A
gnomAD v3:
22-45293294-G-A
gnomAD v4:
22-45293294-G-A
COSMIC:
COSM1714479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293294G>A , CM000684.2:g.45293294G>A | GRCh38 |
| NC_000022.10:g.45689175G>A , CM000684.1:g.45689175G>A | GRCh37 |
| NC_000022.9:g.44067839G>A | NCBI36 |
| NG_016203.1:g.13308G>A | |
| NG_016203.2:g.13308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.685G>A MANE Select | ENSP00000216211.4:p.Ala229Thr | |
| ENST00000216211.8:c.685G>A | ENSP00000216211.4:p.Ala229Thr | |
| ENST00000396082.2:c.322G>A | ENSP00000379391.2:p.Ala108Thr | |
| NM_001167574.1:c.322G>A | NP_001161046.1:p.Ala108Thr | |
| NM_006953.3:c.685G>A | NP_008884.1:p.Ala229Thr | |
| XM_011530364.1:c.691G>A | XP_011528666.1:p.Ala231Thr | |
| XM_011530365.1:c.328G>A | XP_011528667.1:p.Ala110Thr | |
| NM_006953.4:c.685G>A MANE Select | NP_008884.1:p.Ala229Thr | |
| NM_001167574.2:c.322G>A | NP_001161046.1:p.Ala108Thr |