Linked Data
ClinVar Variation Id:
325662
dbSNP Id:
rs371953585
ExAC:
17:7606298 C / T
gnomAD v2:
17-7606298-C-T
gnomAD v3:
17-7702980-C-T
gnomAD v4:
17-7702980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7702980C>T , CM000679.2:g.7702980C>T | GRCh38 |
| NC_000017.10:g.7606298C>T , CM000679.1:g.7606298C>T | GRCh37 |
| NC_000017.9:g.7547023C>T | NCBI36 |
| NG_028245.1:g.21910C>T , LRG_375:g.21910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698742.1:c.1269-13C>T | ENSP00000513904.1:n.1269-13C>T | |
| ENST00000698743.1:c.*1002-13C>T | ENSP00000513905.1:n.*1002-13C>T | |
| ENST00000698744.1:c.*929-13C>T | ENSP00000513906.1:n.*929-13C>T | |
| ENST00000698745.1:c.*713-13C>T | ENSP00000513907.1:n.*713-13C>T | |
| ENST00000698746.1:c.1268+134C>T | ENSP00000513908.1:n.1268+134C>T | |
| ENST00000698747.1:c.861-13C>T | ENSP00000513909.1:n.861-13C>T | |
| ENST00000396463.7:c.1269-13C>T MANE Select | ENSP00000379727.3:n.1269-13C>T | |
| ENST00000316024.9:c.1269-13C>T | ENSP00000324203.5:n.1269-13C>T | |
| ENST00000396463.6:c.1269-13C>T | ENSP00000379727.2:n.1269-13C>T | |
| ENST00000431639.6:c.1269-13C>T | ENSP00000397219.2:n.1269-13C>T | |
| ENST00000457584.6:c.1269-13C>T | ENSP00000411061.2:n.1269-13C>T | |
| ENST00000463804.6:c.238-13C>T | ENSP00000465025.1:n.238-13C>T | |
| ENST00000467699.5:n.2131-13C>T | ||
| ENST00000471973.6:n.604-13C>T | ||
| ENST00000498114.1:n.100C>T | ||
| ENST00000498311.5:c.*437-13C>T | ENSP00000432991.1:n.*437-13C>T | |
| ENST00000534050.5:c.1170-13C>T | ENSP00000434999.1:n.1170-13C>T | |
| NM_001143990.1:c.1269-13C>T | NP_001137462.1:n.1269-13C>T | |
| NM_001143991.1:c.1269-13C>T | NP_001137463.1:n.1269-13C>T | |
| NM_001143992.1:c.1269-13C>T | NP_001137464.1:n.1269-13C>T | |
| NM_018081.2:c.1269-13C>T , LRG_375t1:c.1269-13C>T | NP_060551.2:n.1269-13C>T | |
| XM_011523952.1:c.630-13C>T | XP_011522254.1:n.630-13C>T | |
| XM_011523952.2:c.630-13C>T | XP_011522254.1:n.630-13C>T | |
| XM_024450824.1:c.477-13C>T | XP_024306592.1:n.477-13C>T | |
| XR_001752551.2:n.1546-13C>T | ||
| NM_001143991.2:c.1269-13C>T | NP_001137463.1:n.1269-13C>T | |
| NM_001143992.2:c.1269-13C>T MANE Select | NP_001137464.1:n.1269-13C>T | |
| NM_001143990.2:c.1269-13C>T | NP_001137462.1:n.1269-13C>T |