Linked Data
ClinVar Variation Id:
1920270
ClinVar RCV Id:
RCV002630508
dbSNP Id:
rs1440072510
gnomAD v2:
19-8649889-G-T
gnomAD v3:
19-8585005-G-T
gnomAD v4:
19-8585005-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8585005G>T , CM000681.2:g.8585005G>T | GRCh38 |
| NC_000019.9:g.8649889G>T , CM000681.1:g.8649889G>T | GRCh37 |
| NC_000019.8:g.8555889G>T | NCBI36 |
| NG_011840.2:g.30698C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3092C>A MANE Select | ENSP00000471851.1:p.Thr1031Asn | |
| ENST00000270328.8:c.3092C>A | ENSP00000270328.4:p.Thr1031Asn | |
| ENST00000593913.5:c.*1969C>A | ENSP00000469901.1:n.*1969C>A | |
| ENST00000595838.5:c.1553C>A | ENSP00000470501.1:p.Thr518Asn | |
| ENST00000596851.5:c.*2374C>A | ENSP00000469559.1:n.*2374C>A | |
| ENST00000597188.5:c.3092C>A | ENSP00000471851.1:p.Thr1031Asn | |
| NM_001282352.1:c.1553C>A | NP_001269281.1:p.Thr518Asn | |
| NM_030957.3:c.3092C>A | NP_112219.3:p.Thr1031Asn | |
| XM_006722917.2:c.2135C>A | XP_006722980.1:p.Thr712Asn | |
| XM_011528331.1:c.3239C>A | XP_011526633.1:p.Thr1080Asn | |
| XM_011528332.1:c.3239C>A | XP_011526634.1:p.Thr1080Asn | |
| XM_011528333.1:c.3239C>A | XP_011526635.1:p.Thr1080Asn | |
| XM_011528334.1:c.2915C>A | XP_011526636.1:p.Thr972Asn | |
| XM_011528335.1:c.1808C>A | XP_011526637.1:p.Thr603Asn | |
| XM_011528336.1:c.1802C>A | XP_011526638.1:p.Thr601Asn | |
| XM_006722917.3:c.2135C>A | XP_006722980.1:p.Thr712Asn | |
| XM_017027338.2:c.3092C>A | XP_016882827.1:p.Thr1031Asn | |
| XM_017027339.1:c.1661C>A | XP_016882828.1:p.Thr554Asn | |
| XM_017027340.1:c.1655C>A | XP_016882829.1:p.Thr552Asn | |
| NM_030957.4:c.3092C>A MANE Select | NP_112219.3:p.Thr1031Asn | |
| NM_001282352.2:c.1553C>A | NP_001269281.1:p.Thr518Asn |