Linked Data
ClinVar Variation Id:
1522975
ClinVar RCV Id:
RCV002036413
dbSNP Id:
rs1217808253
gnomAD v2:
17-73512666-G-A
gnomAD v3:
17-75516585-G-A
gnomAD v4:
17-75516585-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516585G>A , CM000679.2:g.75516585G>A | GRCh38 |
| NC_000017.10:g.73512666G>A , CM000679.1:g.73512666G>A | GRCh37 |
| NC_000017.9:g.71024261G>A | NCBI36 |
| NG_013041.1:g.5058G>A | |
| NG_033152.1:g.3999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.25G>A MANE Select | ENSP00000327487.6:p.Ala9Thr | |
| ENST00000434205.8:c.-83+199G>A | ENSP00000406559.4:n.-83+199G>A | |
| ENST00000545228.3:c.25G>A | ENSP00000438169.3:p.Ala9Thr | |
| ENST00000580013.6:n.34G>A | ||
| ENST00000583818.2:c.25G>A | ENSP00000461928.2:p.Ala9Thr | |
| ENST00000679370.1:n.444-161G>A | ||
| ENST00000679429.1:c.25G>A | ENSP00000505403.1:p.Ala9Thr | |
| ENST00000679782.1:c.25G>A | ENSP00000505995.1:p.Ala9Thr | |
| ENST00000679928.1:c.25G>A | ENSP00000506071.1:p.Ala9Thr | |
| ENST00000680528.1:n.50G>A | ||
| ENST00000680999.1:c.25G>A | ENSP00000504984.1:p.Ala9Thr | |
| ENST00000681282.1:c.25G>A | ENSP00000506339.1:p.Ala9Thr | |
| ENST00000333213.10:c.25G>A | ENSP00000327487.6:p.Ala9Thr | |
| ENST00000434205.7:c.-83+199G>A | ENSP00000406559.3:n.-83+199G>A | |
| ENST00000580013.5:n.50G>A | ||
| ENST00000583173.5:c.25G>A | ENSP00000463619.1:p.Ala9Thr | |
| ENST00000583454.1:n.60G>A | ||
| NM_207346.2:c.25G>A | NP_997229.2:p.Ala9Thr | |
| XM_005257229.2:c.25G>A | XP_005257286.1:p.Ala9Thr | |
| XM_006721821.2:c.-247-161G>A | XP_006721884.1:n.-247-161G>A | |
| XM_011524616.1:c.25G>A | XP_011522918.1:p.Ala9Thr | |
| XM_011524617.1:c.25G>A | XP_011522919.1:p.Ala9Thr | |
| XM_011524618.1:c.25G>A | XP_011522920.1:p.Ala9Thr | |
| XR_243646.2:n.55G>A | ||
| XM_005257229.4:c.25G>A | XP_005257286.1:p.Ala9Thr | |
| XR_243646.4:n.61G>A | ||
| NM_207346.3:c.25G>A MANE Select | NP_997229.2:p.Ala9Thr |