Linked Data
dbSNP Id:
rs149115055
gnomAD v2:
1-156869099-C-T
gnomAD v3:
1-156899307-C-T
gnomAD v4:
1-156899307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156899307C>T , CM000663.2:g.156899307C>T | GRCh38 |
| NC_000001.10:g.156869099C>T , CM000663.1:g.156869099C>T | GRCh37 |
| NC_000001.9:g.155135723C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292357.8:c.-9-4611C>T MANE Select | ENSP00000292357.7:n.-9-4611C>T | |
| ENST00000292357.7:c.-9-4611C>T | ENSP00000292357.7:n.-9-4611C>T | |
| ENST00000338302.7:c.-107-2881C>T | ENSP00000344465.3:n.-107-2881C>T | |
| ENST00000444016.5:c.-9-4611C>T | ENSP00000397870.1:n.-9-4611C>T | |
| ENST00000455314.5:c.-9-4611C>T | ENSP00000389742.1:n.-9-4611C>T | |
| NM_001080471.1:c.-9-4611C>T | NP_001073940.1:n.-9-4611C>T | |
| XM_005245141.2:c.-168-2881C>T | XP_005245198.1:n.-168-2881C>T | |
| XM_006711302.2:c.-168-2881C>T | XP_006711365.1:n.-168-2881C>T | |
| XM_011509508.1:c.-164-2881C>T | XP_011507810.1:n.-164-2881C>T | |
| XM_011509509.1:c.-107-2881C>T | XP_011507811.1:n.-107-2881C>T | |
| XM_011509510.1:c.-107-2881C>T | XP_011507812.1:n.-107-2881C>T | |
| XM_011509511.1:c.-168-2881C>T | XP_011507813.1:n.-168-2881C>T | |
| XM_011509512.1:c.-494-4611C>T | XP_011507814.1:n.-494-4611C>T | |
| NM_001353682.1:c.-347-4611C>T | NP_001340611.1:n.-347-4611C>T | |
| NM_001353683.1:c.-506-2881C>T | NP_001340612.1:n.-506-2881C>T | |
| XM_005245141.3:c.-168-2881C>T | XP_005245198.1:n.-168-2881C>T | |
| XM_011509510.2:c.-107-2881C>T | XP_011507812.1:n.-107-2881C>T | |
| XM_011509511.2:c.-168-2881C>T | XP_011507813.1:n.-168-2881C>T | |
| XM_011509512.2:c.-494-4611C>T | XP_011507814.1:n.-494-4611C>T | |
| XM_017001236.1:c.-70-4550C>T | XP_016856725.1:n.-70-4550C>T | |
| XM_017001238.1:c.-445-2881C>T | XP_016856727.1:n.-445-2881C>T | |
| XM_017001239.1:c.-256-4611C>T | XP_016856728.1:n.-256-4611C>T | |
| XM_017001242.1:c.-69+5470C>T | XP_016856731.1:n.-69+5470C>T | |
| NM_001353682.2:c.-347-4611C>T | NP_001340611.1:n.-347-4611C>T | |
| NM_001353683.2:c.-506-2881C>T | NP_001340612.1:n.-506-2881C>T | |
| NM_001080471.3:c.-9-4611C>T MANE Select | NP_001073940.1:n.-9-4611C>T |