Linked Data
ClinVar Variation Id:
473216
dbSNP Id:
rs765632190
gnomAD v3:
9-35092167-G-A
gnomAD v4:
9-35092167-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35092167G>A , CM000671.2:g.35092167G>A | GRCh38 |
| NC_000009.11:g.35092164G>A , CM000671.1:g.35092164G>A | GRCh37 |
| NC_000009.10:g.35082164G>A | NCBI36 |
| NG_031990.1:g.9435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361778.7:c.1344+376C>T | ENSP00000354678.2:n.1344+376C>T | |
| ENST00000700254.1:c.1344+376C>T | ENSP00000514892.1:n.1344+376C>T | |
| ENST00000700255.1:c.*900C>T | ENSP00000514893.1:n.*900C>T | |
| ENST00000700256.1:n.1752C>T | ||
| ENST00000700257.1:c.1720C>T | ENSP00000514894.1:p.Pro574Ser | |
| ENST00000700259.1:c.1344+376C>T | ENSP00000514895.1:n.1344+376C>T | |
| ENST00000700260.1:c.1164+376C>T | ENSP00000514896.1:n.1164+376C>T | |
| ENST00000700261.1:c.1360+360C>T | ENSP00000514897.1:n.1360+360C>T | |
| ENST00000700262.1:c.1344+376C>T | ENSP00000514898.1:n.1344+376C>T | |
| ENST00000700263.1:c.1596C>T | ENSP00000514899.1:n.1596C>T | |
| ENST00000700264.1:c.1720C>T | ENSP00000514900.1:p.Pro574Ser | |
| ENST00000378617.4:c.1720C>T MANE Select | ENSP00000367880.3:p.Pro574Ser | |
| ENST00000298004.9:c.1344+376C>T | ENSP00000298004.5:n.1344+376C>T | |
| ENST00000361778.6:c.1344+376C>T | ENSP00000354678.2:n.1344+376C>T | |
| ENST00000378617.3:c.1720C>T | ENSP00000367880.3:p.Pro574Ser | |
| ENST00000465745.6:n.2721C>T | ||
| ENST00000474436.1:n.3178C>T | ||
| NM_001201484.1:c.1344+376C>T | NP_001188413.1:n.1344+376C>T | |
| NM_032634.3:c.1720C>T | NP_116023.2:p.Pro574Ser | |
| NM_152850.3:c.1344+376C>T | NP_690577.2:n.1344+376C>T | |
| XM_005251619.2:c.1720C>T | XP_005251676.1:p.Pro574Ser | |
| XM_011518056.1:c.1720C>T | XP_011516358.1:p.Pro574Ser | |
| XR_242515.1:n.1741C>T | ||
| XM_005251619.3:c.1720C>T | XP_005251676.1:p.Pro574Ser | |
| XM_017015222.2:c.1720C>T | XP_016870711.1:p.Pro574Ser | |
| XM_017015223.1:c.1344+376C>T | XP_016870712.1:n.1344+376C>T | |
| XM_017015224.1:c.1344+376C>T | XP_016870713.1:n.1344+376C>T | |
| XR_001746390.1:n.2143C>T | ||
| XR_001746391.2:n.1365+376C>T | ||
| XR_242515.3:n.1741C>T | ||
| NM_032634.4:c.1720C>T MANE Select | NP_116023.2:p.Pro574Ser | |
| NM_001201484.2:c.1344+376C>T | NP_001188413.1:n.1344+376C>T | |
| NM_152850.4:c.1344+376C>T | NP_690577.2:n.1344+376C>T |