Linked Data
ClinVar Variation Id:
583398
dbSNP Id:
rs774341327
ExAC:
6:32810785 C / T
gnomAD v2:
6-32810785-C-T
gnomAD v3:
6-32843008-C-T
gnomAD v4:
6-32843008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843008C>T , CM000668.2:g.32843008C>T | GRCh38 |
| NC_000006.11:g.32810785C>T , CM000668.1:g.32810785C>T | GRCh37 |
| NC_000006.10:g.32918763C>T | NCBI36 |
| NG_009793.3:g.763G>A | |
| NG_028165.1:g.6928G>A | |
| NG_009793.4:g.763G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.250G>A | ||
| ENST00000697612.1:n.928G>A | ||
| ENST00000374881.3:c.217G>A | ENSP00000364015.2:p.Ala73Thr | |
| ENST00000374882.8:c.229G>A MANE Select | ENSP00000364016.4:p.Ala77Thr | |
| ENST00000650411.1:n.1550G>A | ||
| ENST00000650793.1:n.250G>A | ||
| ENST00000374881.2:c.217G>A | ENSP00000364015.2:p.Ala73Thr | |
| ENST00000374882.7:c.229G>A | ENSP00000364016.3:p.Ala77Thr | |
| ENST00000395339.7:c.229G>A | ENSP00000378748.3:p.Ala77Thr | |
| ENST00000484003.1:n.455G>A | ||
| NM_004159.4:c.217G>A | NP_004150.1:p.Ala73Thr | |
| NM_148919.3:c.229G>A | NP_683720.2:p.Ala77Thr | |
| NM_148919.4:c.229G>A MANE Select | NP_683720.2:p.Ala77Thr | |
| NM_004159.5:c.217G>A | NP_004150.1:p.Ala73Thr |