Linked Data
ClinVar Variation Id:
1682764
ClinVar RCV Id:
RCV002237687
dbSNP Id:
rs377241671
gnomAD v2:
19-11533279-C-T
gnomAD v3:
19-11422611-C-T
gnomAD v4:
19-11422611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422611C>T , CM000681.2:g.11422611C>T | GRCh38 |
| NC_000019.9:g.11533279C>T , CM000681.1:g.11533279C>T | GRCh37 |
| NC_000019.8:g.11394279C>T | NCBI36 |
| NG_041777.1:g.18172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1294G>A MANE Select | ENSP00000348757.3:p.Ala432Thr | |
| ENST00000356392.8:c.1294G>A | ENSP00000348757.3:p.Ala432Thr | |
| ENST00000586836.5:c.721G>A | ENSP00000467429.1:p.Ala241Thr | |
| ENST00000591179.5:c.1114G>A | ENSP00000466800.1:p.Ala372Thr | |
| ENST00000591345.5:c.*1213G>A | ENSP00000467313.1:n.*1213G>A | |
| NM_001302453.1:c.1132G>A | NP_001289382.1:p.Ala378Thr | |
| NM_001302454.1:c.1114G>A | NP_001289383.1:p.Ala372Thr | |
| NM_145045.4:c.1294G>A | NP_659482.3:p.Ala432Thr | |
| NM_145045.5:c.1294G>A MANE Select | NP_659482.3:p.Ala432Thr | |
| NM_001302454.2:c.1114G>A | NP_001289383.1:p.Ala372Thr |