Linked Data
ClinVar Variation Id:
758789
ClinVar RCV Id:
RCV000936541
dbSNP Id:
rs199769305
ExAC:
9:125145931 G / A
gnomAD v2:
9-125145931-G-A
gnomAD v3:
9-122383652-G-A
gnomAD v4:
9-122383652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122383652G>A , CM000671.2:g.122383652G>A | GRCh38 |
| NC_000009.11:g.125145931G>A , CM000671.1:g.125145931G>A | GRCh37 |
| NC_000009.10:g.124185752G>A | NCBI36 |
| NG_032900.1:g.17703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362012.7:c.906G>A MANE Select | ENSP00000354612.2:p.Thr302= | |
| ENST00000373698.7:c.579G>A | ENSP00000362802.5:p.Thr193= | |
| ENST00000540753.6:c.831G>A | ENSP00000437709.1:p.Thr277= | |
| ENST00000619306.5:c.762G>A | ENSP00000483540.2:p.Thr254= | |
| ENST00000643576.1:n.1000G>A | ||
| ENST00000643810.1:c.579G>A | ENSP00000494717.1:p.Thr193= | |
| ENST00000645132.1:n.520-2794G>A | ||
| ENST00000647067.1:c.*751G>A | ENSP00000495728.1:n.*751G>A | |
| ENST00000223423.8:c.906G>A | ENSP00000223423.4:p.Thr302= | |
| ENST00000362012.6:c.906G>A | ENSP00000354612.2:p.Thr302= | |
| ENST00000373698.6:c.579G>A | ENSP00000362802.5:p.Thr193= | |
| ENST00000540753.5:c.831G>A | ENSP00000437709.1:p.Thr277= | |
| ENST00000614910.4:c.762G>A | ENSP00000484800.1:p.Thr254= | |
| ENST00000619306.4:c.999G>A | ENSP00000483540.1:p.Thr333= | |
| NM_000962.3:c.906G>A | NP_000953.2:p.Thr302= | |
| NM_001271164.1:c.762G>A | NP_001258093.1:p.Thr254= | |
| NM_001271165.1:c.579G>A | NP_001258094.1:p.Thr193= | |
| NM_001271166.1:c.579G>A | NP_001258095.1:p.Thr193= | |
| NM_001271367.1:c.579G>A | NP_001258296.1:p.Thr193= | |
| NM_001271368.1:c.831G>A | NP_001258297.1:p.Thr277= | |
| NM_080591.2:c.906G>A | NP_542158.1:p.Thr302= | |
| XM_005252105.2:c.831G>A | XP_005252162.1:p.Thr277= | |
| XM_011518875.1:c.831G>A | XP_011517177.1:p.Thr277= | |
| XM_011518876.1:c.579G>A | XP_011517178.1:p.Thr193= | |
| XM_005252105.3:c.831G>A | XP_005252162.1:p.Thr277= | |
| XM_011518875.2:c.831G>A | XP_011517177.1:p.Thr277= | |
| XM_011518876.2:c.579G>A | XP_011517178.1:p.Thr193= | |
| XM_024447614.1:c.579G>A | XP_024303382.1:p.Thr193= | |
| XM_024447615.1:c.579G>A | XP_024303383.1:p.Thr193= | |
| NM_000962.4:c.906G>A MANE Select | NP_000953.2:p.Thr302= | |
| NM_001271164.2:c.762G>A | NP_001258093.1:p.Thr254= | |
| NM_001271165.2:c.579G>A | NP_001258094.1:p.Thr193= | |
| NM_001271166.2:c.579G>A | NP_001258095.1:p.Thr193= | |
| NM_001271367.2:c.579G>A | NP_001258296.1:p.Thr193= | |
| NM_001271368.2:c.831G>A | NP_001258297.1:p.Thr277= | |
| NM_080591.3:c.906G>A | NP_542158.1:p.Thr302= |