Linked Data
dbSNP Id:
rs9329350
gnomAD v2:
13-114507239-C-T
gnomAD v3:
13-113804266-C-T
gnomAD v4:
13-113804266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113804266C>T , CM000675.2:g.113804266C>T | GRCh38 |
| NC_000013.10:g.114507239C>T , CM000675.1:g.114507239C>T | GRCh37 |
| NC_000013.9:g.113606704G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375353.5:c.670-619C>T MANE Select | ENSP00000364502.3:n.670-619C>T | |
| ENST00000375353.4:c.670-619C>T | ENSP00000364502.3:n.670-619C>T | |
| ENST00000467169.1:n.284-619C>T | ||
| ENST00000498692.1:n.384-619C>T | ||
| NM_182614.2:c.670-619C>T | NP_872420.1:n.670-619C>T | |
| XM_005272413.2:c.763-619C>T | XP_005272470.1:n.763-619C>T | |
| XM_005272414.3:c.676-619C>T | XP_005272471.1:n.676-619C>T | |
| XM_005272415.2:c.403-619C>T | XP_005272472.1:n.403-619C>T | |
| XM_006719982.2:c.769-619C>T | XP_006720045.1:n.769-619C>T | |
| XM_006719983.2:c.685-619C>T | XP_006720046.1:n.685-619C>T | |
| XM_006719984.2:c.679-619C>T | XP_006720047.1:n.679-619C>T | |
| XM_006719985.2:c.768+2454C>T | XP_006720048.1:n.768+2454C>T | |
| XM_006719986.2:c.403-619C>T | XP_006720049.1:n.403-619C>T | |
| XR_941408.1:n.1526-619C>T | ||
| NM_001348663.1:c.669+2454C>T | NP_001335592.1:n.669+2454C>T | |
| NM_182614.3:c.670-619C>T | NP_872420.1:n.670-619C>T | |
| XM_005272413.3:c.763-619C>T | XP_005272470.1:n.763-619C>T | |
| XM_005272415.3:c.403-619C>T | XP_005272472.1:n.403-619C>T | |
| XM_017020558.1:c.835-619C>T | XP_016876047.1:n.835-619C>T | |
| XM_017020559.1:c.757-619C>T | XP_016876048.1:n.757-619C>T | |
| XM_017020560.1:c.607-619C>T | XP_016876049.1:n.607-619C>T | |
| XM_024449345.1:c.361-619C>T | XP_024305113.1:n.361-619C>T | |
| NM_001348663.2:c.669+2454C>T | NP_001335592.1:n.669+2454C>T | |
| NM_182614.4:c.670-619C>T MANE Select | NP_872420.1:n.670-619C>T |