Linked Data
ClinVar Variation Id:
500262
dbSNP Id:
rs202032347
ExAC:
11:6412952 G / A
gnomAD v2:
11-6412952-G-A
gnomAD v3:
11-6391722-G-A
gnomAD v4:
11-6391722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391722G>A , CM000673.2:g.6391722G>A | GRCh38 |
| NC_000011.9:g.6412952G>A , CM000673.1:g.6412952G>A | GRCh37 |
| NC_000011.8:g.6369528G>A | NCBI36 |
| NG_011780.1:g.6298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.657G>A MANE Select | ENSP00000340409.4:p.Thr219= | |
| ENST00000342245.8:c.657G>A | ENSP00000340409.4:p.Thr219= | |
| ENST00000527275.5:c.654G>A | ENSP00000435350.1:p.Thr218= | |
| ENST00000530395.1:c.-95-68G>A | ENSP00000431479.1:n.-95-68G>A | |
| ENST00000531303.5:c.438+219G>A | ENSP00000432625.1:n.438+219G>A | |
| ENST00000533123.5:c.657G>A | ENSP00000435950.1:p.Thr219= | |
| ENST00000533196.1:n.375-284G>A | ||
| ENST00000534405.5:c.657G>A | ENSP00000434353.1:p.Thr219= | |
| NM_000543.4:c.657G>A | NP_000534.3:p.Thr219= | |
| NM_001007593.2:c.654G>A | NP_001007594.2:p.Thr218= | |
| XM_005253075.3:c.657G>A | XP_005253132.1:p.Thr219= | |
| XM_011520303.1:c.657G>A | XP_011518605.1:p.Thr219= | |
| XM_011520304.1:c.657G>A | XP_011518606.1:p.Thr219= | |
| XR_930886.1:n.955G>A | ||
| NM_001318087.1:c.657G>A | NP_001305016.1:p.Thr219= | |
| NM_001318088.1:c.-305G>A | NP_001305017.1:n.-305G>A | |
| NM_001365135.1:c.657G>A | NP_001352064.1:p.Thr219= | |
| NR_027400.2:n.842G>A | ||
| NR_134502.1:n.623+219G>A | ||
| XM_011520304.2:c.657G>A | XP_011518606.1:p.Thr219= | |
| XR_001747940.2:n.782G>A | ||
| XR_002957158.1:n.782G>A | ||
| NM_000543.5:c.657G>A MANE Select | NP_000534.3:p.Thr219= | |
| NM_001007593.3:c.654G>A | NP_001007594.2:p.Thr218= | |
| NM_001318087.2:c.657G>A | NP_001305016.1:p.Thr219= | |
| NM_001318088.2:c.-305G>A | NP_001305017.1:n.-305G>A | |
| NM_001365135.2:c.657G>A | NP_001352064.1:p.Thr219= | |
| NR_027400.3:n.782G>A | ||
| NR_134502.2:n.563+219G>A |