Linked Data
ClinVar Variation Id:
339396
dbSNP Id:
rs554749952
gnomAD v3:
20-63933172-C-T
gnomAD v4:
20-63933172-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63933172C>T , CM000682.2:g.63933172C>T | GRCh38 |
| NC_000020.10:g.62564525C>T , CM000682.1:g.62564525C>T | GRCh37 |
| NC_000020.9:g.62034969C>T | NCBI36 |
| NG_029805.1:g.43071C>T | |
| NG_029805.2:g.43071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703637.1:c.*1771C>T | ENSP00000515413.1:n.*1771C>T | |
| ENST00000360864.9:c.*1604C>T MANE Select | ENSP00000354111.4:n.*1604C>T | |
| ENST00000360864.8:c.*1604C>T | ENSP00000354111.4:n.*1604C>T | |
| ENST00000470551.1:c.*1771C>T | ENSP00000434744.1:n.*1771C>T | |
| NM_025219.2:c.*1604C>T | NP_079495.1:n.*1604C>T | |
| XM_011529048.1:c.*1604C>T | XP_011527350.1:n.*1604C>T | |
| XM_011529049.1:c.*1604C>T | XP_011527351.1:n.*1604C>T | |
| XM_011529050.1:c.*1604C>T | XP_011527352.1:n.*1604C>T | |
| XR_936629.1:n.2907C>T | ||
| XR_936630.1:n.3165C>T | ||
| XM_011529048.2:c.*1604C>T | XP_011527350.1:n.*1604C>T | |
| XR_936629.2:n.2920C>T | ||
| NM_025219.3:c.*1604C>T MANE Select | NP_079495.1:n.*1604C>T |