Linked Data
ClinVar Variation Id:
348589
ClinVar RCV Id:
RCV000359285
dbSNP Id:
rs367963191
gnomAD v2:
4-2833637-C-T
gnomAD v3:
4-2831910-C-T
gnomAD v4:
4-2831910-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2831910C>T , CM000666.2:g.2831910C>T | GRCh38 |
| NC_000004.11:g.2833637C>T , CM000666.1:g.2833637C>T | GRCh37 |
| NC_000004.10:g.2803435C>T | NCBI36 |
| NG_011609.1:g.43888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.1435-13C>T | ENSP00000403231.3:n.1435-13C>T | |
| ENST00000503393.8:c.1351-13C>T MANE Select | ENSP00000422168.3:n.1351-13C>T | |
| ENST00000511747.6:c.1522-13C>T | ENSP00000424846.2:n.1522-13C>T | |
| ENST00000356331.9:c.1351-13C>T | ENSP00000348685.5:n.1351-13C>T | |
| ENST00000435136.6:c.1351-13C>T | ENSP00000403231.2:n.1351-13C>T | |
| ENST00000442312.6:c.1435-13C>T | ENSP00000388152.2:n.1435-13C>T | |
| ENST00000452765.6:c.1351-13C>T | ENSP00000409746.2:n.1351-13C>T | |
| ENST00000503393.6:c.1522-13C>T | ENSP00000422168.2:n.1522-13C>T | |
| ENST00000504450.1:n.648-13C>T | ||
| ENST00000510204.5:n.1828-13C>T | ||
| ENST00000511747.5:c.1351-13C>T | ENSP00000424846.1:n.1351-13C>T | |
| ENST00000513069.1:c.460+231C>T | ||
| ENST00000515737.5:c.*1236-13C>T | ENSP00000422605.1:n.*1236-13C>T | |
| ENST00000515802.5:n.1457-13C>T | ||
| NM_001122681.1:c.1351-13C>T | NP_001116153.1:n.1351-13C>T | |
| NM_001145855.1:c.1435-13C>T | NP_001139327.1:n.1435-13C>T | |
| NM_001145856.1:c.1522-13C>T | NP_001139328.1:n.1522-13C>T | |
| NM_003023.4:c.1351-13C>T | NP_003014.3:n.1351-13C>T | |
| XM_005247998.3:c.1360-13C>T | XP_005248055.1:n.1360-13C>T | |
| XM_005247999.3:c.1351-13C>T | XP_005248056.1:n.1351-13C>T | |
| XM_011513547.1:c.1522-13C>T | XP_011511849.1:n.1522-13C>T | |
| XM_011513548.1:c.1350+231C>T | XP_011511850.1:n.1350+231C>T | |
| XM_011513549.1:c.1351-13C>T | XP_011511851.1:n.1351-13C>T | |
| XM_011513550.1:c.1351-13C>T | XP_011511852.1:n.1351-13C>T | |
| XM_011513551.1:c.1350+231C>T | XP_011511853.1:n.1350+231C>T | |
| XM_011513552.1:c.1180-13C>T | XP_011511854.1:n.1180-13C>T | |
| XM_011513553.1:c.988-13C>T | XP_011511855.1:n.988-13C>T | |
| XM_011513554.1:c.695+231C>T | XP_011511856.1:n.695+231C>T | |
| XM_011513555.1:c.696-13C>T | XP_011511857.1:n.696-13C>T | |
| XM_011513556.1:c.696-13C>T | XP_011511858.1:n.696-13C>T | |
| XR_924990.1:n.1355-13C>T | ||
| NM_001122681.2:c.1351-13C>T MANE Select | NP_001116153.1:n.1351-13C>T | |
| NM_001145855.2:c.1435-13C>T | NP_001139327.1:n.1435-13C>T | |
| NM_001145856.2:c.1522-13C>T | NP_001139328.1:n.1522-13C>T |