Linked Data
ClinVar Variation Id:
366748
ClinVar RCV Id:
RCV000340441
dbSNP Id:
rs886063902
gnomAD v3:
9-35088720-T-A
gnomAD v4:
9-35088720-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35088720T>A , CM000671.2:g.35088720T>A | GRCh38 |
| NC_000009.11:g.35088717T>A , CM000671.1:g.35088717T>A | GRCh37 |
| NC_000009.10:g.35078717T>A | NCBI36 |
| NG_031990.1:g.12882A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361778.7:c.*372A>T | ENSP00000354678.2:n.*372A>T | |
| ENST00000700254.1:c.*372A>T | ENSP00000514892.1:n.*372A>T | |
| ENST00000700255.1:c.*2822A>T | ENSP00000514893.1:n.*2822A>T | |
| ENST00000700256.1:n.4474A>T | ||
| ENST00000700257.1:c.*68+304A>T | ENSP00000514894.1:n.*68+304A>T | |
| ENST00000700258.1:n.1633A>T | ||
| ENST00000700259.1:c.*1205A>T | ENSP00000514895.1:n.*1205A>T | |
| ENST00000700260.1:c.2211A>T | ENSP00000514896.1:n.2211A>T | |
| ENST00000700261.1:c.*372A>T | ENSP00000514897.1:n.*372A>T | |
| ENST00000700262.1:c.*573A>T | ENSP00000514898.1:n.*573A>T | |
| ENST00000378617.4:c.*372A>T MANE Select | ENSP00000367880.3:n.*372A>T | |
| ENST00000298004.9:c.*372A>T | ENSP00000298004.5:n.*372A>T | |
| ENST00000361778.6:c.*372A>T | ENSP00000354678.2:n.*372A>T | |
| ENST00000378617.3:c.*372A>T | ENSP00000367880.3:n.*372A>T | |
| ENST00000465745.6:n.5420A>T | ||
| ENST00000474436.1:n.6625A>T | ||
| NM_001201484.1:c.*372A>T | NP_001188413.1:n.*372A>T | |
| NM_032634.3:c.*372A>T | NP_116023.2:n.*372A>T | |
| NM_152850.3:c.*372A>T | NP_690577.2:n.*372A>T | |
| XM_005251619.2:c.*372A>T | XP_005251676.1:n.*372A>T | |
| XM_011518056.1:c.*372A>T | XP_011516358.1:n.*372A>T | |
| XM_005251619.3:c.*372A>T | XP_005251676.1:n.*372A>T | |
| XM_017015222.2:c.*372A>T | XP_016870711.1:n.*372A>T | |
| XM_017015223.1:c.*372A>T | XP_016870712.1:n.*372A>T | |
| XM_017015224.1:c.*372A>T | XP_016870713.1:n.*372A>T | |
| XR_001746390.1:n.4069A>T | ||
| XR_001746391.2:n.2416A>T | ||
| XR_242515.3:n.3667A>T | ||
| NM_032634.4:c.*372A>T MANE Select | NP_116023.2:n.*372A>T | |
| NM_001201484.2:c.*372A>T | NP_001188413.1:n.*372A>T | |
| NM_152850.4:c.*372A>T | NP_690577.2:n.*372A>T |