Linked Data
ClinVar Variation Id:
1646057
ClinVar RCV Id:
RCV002150948
dbSNP Id:
rs958702453
gnomAD v2:
13-77566179-C-T
gnomAD v3:
13-76992044-C-T
gnomAD v4:
13-76992044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992044C>T , CM000675.2:g.76992044C>T | GRCh38 |
| NC_000013.10:g.77566179C>T , CM000675.1:g.77566179C>T | GRCh37 |
| NC_000013.9:g.76464180C>T | NCBI36 |
| NG_009064.1:g.5121C>T , LRG_692:g.5121C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-55C>T | ENSP00000490181.2:n.-55C>T | |
| ENST00000636780.2:c.-55C>T | ENSP00000489809.2:n.-55C>T | |
| ENST00000377453.7:c.93C>T | ENSP00000366673.3:p.Leu31= | |
| NM_006493.2:c.93C>T , LRG_692t1:c.93C>T | NP_006484.1:p.Leu31= | |
| XM_011534917.1:c.93C>T | XP_011533219.1:p.Leu31= |