Linked Data
ClinVar Variation Id:
730428
ClinVar RCV Id:
RCV000905226
dbSNP Id:
rs202158691
ExAC:
19:8650360 C / T
gnomAD v2:
19-8650360-C-T
gnomAD v3:
19-8585476-C-T
gnomAD v4:
19-8585476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8585476C>T , CM000681.2:g.8585476C>T | GRCh38 |
| NC_000019.9:g.8650360C>T , CM000681.1:g.8650360C>T | GRCh37 |
| NC_000019.8:g.8556360C>T | NCBI36 |
| NG_011840.2:g.30227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.2845G>A MANE Select | ENSP00000471851.1:p.Ala949Thr | |
| ENST00000270328.8:c.2845G>A | ENSP00000270328.4:p.Ala949Thr | |
| ENST00000593913.5:c.*1722G>A | ENSP00000469901.1:n.*1722G>A | |
| ENST00000595838.5:c.1306G>A | ENSP00000470501.1:p.Ala436Thr | |
| ENST00000596851.5:c.*1980G>A | ENSP00000469559.1:n.*1980G>A | |
| ENST00000597188.5:c.2845G>A | ENSP00000471851.1:p.Ala949Thr | |
| NM_001282352.1:c.1306G>A | NP_001269281.1:p.Ala436Thr | |
| NM_030957.3:c.2845G>A | NP_112219.3:p.Ala949Thr | |
| XM_006722917.2:c.1741G>A | XP_006722980.1:p.Ala581Thr | |
| XM_011528331.1:c.2845G>A | XP_011526633.1:p.Ala949Thr | |
| XM_011528332.1:c.2845G>A | XP_011526634.1:p.Ala949Thr | |
| XM_011528333.1:c.2845G>A | XP_011526635.1:p.Ala949Thr | |
| XM_011528334.1:c.2845G>A | XP_011526636.1:p.Ala949Thr | |
| XM_011528335.1:c.1414G>A | XP_011526637.1:p.Ala472Thr | |
| XM_011528336.1:c.1408G>A | XP_011526638.1:p.Ala470Thr | |
| XM_006722917.3:c.1741G>A | XP_006722980.1:p.Ala581Thr | |
| XM_017027338.2:c.2845G>A | XP_016882827.1:p.Ala949Thr | |
| XM_017027339.1:c.1414G>A | XP_016882828.1:p.Ala472Thr | |
| XM_017027340.1:c.1408G>A | XP_016882829.1:p.Ala470Thr | |
| NM_030957.4:c.2845G>A MANE Select | NP_112219.3:p.Ala949Thr | |
| NM_001282352.2:c.1306G>A | NP_001269281.1:p.Ala436Thr |