Linked Data
ClinVar Variation Id:
281463
ClinVar RCV Id:
RCV000377953
dbSNP Id:
rs886042169
gnomAD v2:
17-73518162-G-A
gnomAD v3:
17-75522081-G-A
gnomAD v4:
17-75522081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522081G>A , CM000679.2:g.75522081G>A | GRCh38 |
| NC_000017.10:g.73518162G>A , CM000679.1:g.73518162G>A | GRCh37 |
| NC_000017.9:g.71029757G>A | NCBI36 |
| NG_013041.1:g.10554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1000G>A MANE Select | ENSP00000327487.6:p.Ala334Thr | |
| ENST00000434205.8:c.697G>A | ENSP00000406559.4:p.Ala233Thr | |
| ENST00000545228.3:c.1000G>A | ENSP00000438169.3:p.Ala334Thr | |
| ENST00000579449.2:n.799G>A | ||
| ENST00000580013.6:n.1203G>A | ||
| ENST00000679370.1:n.1581G>A | ||
| ENST00000679429.1:c.*458G>A | ENSP00000505403.1:n.*458G>A | |
| ENST00000679443.1:n.1069G>A | ||
| ENST00000679782.1:c.1000G>A | ENSP00000505995.1:p.Ala334Thr | |
| ENST00000679919.1:n.1069G>A | ||
| ENST00000679928.1:c.*611G>A | ENSP00000506071.1:n.*611G>A | |
| ENST00000680528.1:n.1025G>A | ||
| ENST00000680999.1:c.1000G>A | ENSP00000504984.1:p.Ala334Thr | |
| ENST00000681282.1:c.*246G>A | ENSP00000506339.1:n.*246G>A | |
| ENST00000333213.10:c.1000G>A | ENSP00000327487.6:p.Ala334Thr | |
| ENST00000545228.2:c.89G>A | ||
| ENST00000578415.1:c.960G>A | ||
| ENST00000583173.5:c.533G>A | ENSP00000463619.1:p.Arg178His | |
| NM_207346.2:c.1000G>A | NP_997229.2:p.Ala334Thr | |
| XM_005257229.2:c.1000G>A | XP_005257286.1:p.Ala334Thr | |
| XM_006721821.2:c.697G>A | XP_006721884.1:p.Ala233Thr | |
| XM_011524616.1:c.1000G>A | XP_011522918.1:p.Ala334Thr | |
| XM_011524617.1:c.1000G>A | XP_011522919.1:p.Ala334Thr | |
| XM_011524618.1:c.1000G>A | XP_011522920.1:p.Ala334Thr | |
| XR_243646.2:n.1030G>A | ||
| XM_005257229.4:c.1000G>A | XP_005257286.1:p.Ala334Thr | |
| XR_243646.4:n.1036G>A | ||
| NM_207346.3:c.1000G>A MANE Select | NP_997229.2:p.Ala334Thr |