Linked Data
ClinVar Variation Id:
3186770
ClinVar RCV Id:
RCV004482151
dbSNP Id:
rs554313984
ExAC:
10:12071110 G / A
gnomAD v2:
10-12071110-G-A
gnomAD v3:
10-12029111-G-A
gnomAD v4:
10-12029111-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12029111G>A , CM000672.2:g.12029111G>A | GRCh38 |
| NC_000010.10:g.12071110G>A , CM000672.1:g.12071110G>A | GRCh37 |
| NC_000010.9:g.12111116G>A | NCBI36 |
| NG_033936.1:g.19060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357604.10:c.779C>T MANE Select | ENSP00000350221.5:p.Thr260Ile | |
| ENST00000356352.6:c.779C>T | ENSP00000348708.2:p.Thr260Ile | |
| ENST00000357604.9:c.779C>T | ENSP00000350221.5:p.Thr260Ile | |
| ENST00000397053.6:c.779C>T | ENSP00000380244.2:p.Thr260Ile | |
| NM_015542.3:c.779C>T | NP_056357.1:p.Thr260Ile | |
| NM_080599.2:c.779C>T | NP_542166.1:p.Thr260Ile | |
| XM_011519447.1:c.779C>T | XP_011517749.1:p.Thr260Ile | |
| XM_011519448.1:c.779C>T | XP_011517750.1:p.Thr260Ile | |
| XM_011519449.1:c.779C>T | XP_011517751.1:p.Thr260Ile | |
| XR_930489.1:n.852C>T | ||
| XM_011519449.3:c.779C>T | XP_011517751.1:p.Thr260Ile | |
| XR_930489.3:n.884C>T | ||
| NM_015542.4:c.779C>T MANE Select | NP_056357.1:p.Thr260Ile | |
| NM_080599.3:c.779C>T | NP_542166.1:p.Thr260Ile |