Linked Data
ClinVar Variation Id:
3176628
ClinVar RCV Id:
RCV004474488
dbSNP Id:
rs766934113
gnomAD v2:
8-134145901-G-A
gnomAD v3:
8-133133657-G-A
gnomAD v4:
8-133133657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133657G>A , CM000670.2:g.133133657G>A | GRCh38 |
| NC_000008.10:g.134145901G>A , CM000670.1:g.134145901G>A | GRCh37 |
| NC_000008.9:g.134215083G>A | NCBI36 |
| NG_015832.1:g.271697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8185G>A MANE Select | ENSP00000220616.4:p.Ala2729Thr | |
| ENST00000220616.8:c.8185G>A | ENSP00000220616.4:p.Ala2729Thr | |
| ENST00000519178.5:c.3551G>A | ||
| ENST00000519543.5:c.2584G>A | ENSP00000430430.1:p.Ala862Thr | |
| ENST00000521107.1:c.397G>A | ENSP00000430161.1:p.Ala133Thr | |
| ENST00000522691.1:n.271G>A | ||
| ENST00000523756.5:c.4840G>A | ||
| NM_003235.4:c.8185G>A | NP_003226.4:p.Ala2729Thr | |
| XM_005251038.3:c.7993G>A | XP_005251095.1:p.Ala2665Thr | |
| XM_006716622.2:c.8122G>A | XP_006716685.1:p.Ala2708Thr | |
| XM_005251038.4:c.7993G>A | XP_005251095.1:p.Ala2665Thr | |
| XM_006716622.3:c.8122G>A | XP_006716685.1:p.Ala2708Thr | |
| XM_017013793.1:c.8119G>A | XP_016869282.1:p.Ala2707Thr | |
| XM_017013794.1:c.8050G>A | XP_016869283.1:p.Ala2684Thr | |
| XM_017013795.1:c.8014G>A | XP_016869284.1:p.Ala2672Thr | |
| XM_017013796.1:c.7966G>A | XP_016869285.1:p.Ala2656Thr | |
| XM_017013797.1:c.7924G>A | XP_016869286.1:p.Ala2642Thr | |
| NM_003235.5:c.8185G>A MANE Select | NP_003226.4:p.Ala2729Thr |