Linked Data
ClinVar Variation Id:
102972
ClinVar RCV Id:
RCV000089232
dbSNP Id:
rs199475909
gnomAD v2:
16-50731011-C-T
gnomAD v3:
16-50697100-C-T
gnomAD v4:
16-50697100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50697100C>T , CM000678.2:g.50697100C>T | GRCh38 |
| NC_000016.9:g.50731011C>T , CM000678.1:g.50731011C>T | GRCh37 |
| NC_000016.8:g.49288512C>T | NCBI36 |
| NG_007508.1:g.4962C>T , LRG_177:g.4962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.-8-2388C>T | ENSP00000493088.1:n.-8-2388C>T | |
| ENST00000646677.2:c.-8-2388C>T | ENSP00000496533.1:n.-8-2388C>T | |
| ENST00000641284.1:c.-8-2388C>T | ENSP00000493088.1:n.-8-2388C>T | |
| ENST00000646677.1:c.-8-2388C>T | ENSP00000496533.1:n.-8-2388C>T | |
| ENST00000647318.2:c.-8-2388C>T MANE Select | ENSP00000495993.1:n.-8-2388C>T | |
| ENST00000526417.6:n.61-2388C>T | ||
| ENST00000531674.1:c.-9+620C>T | ENSP00000431681.1:n.-9+620C>T | |
| XM_005256084.2:c.-8-2388C>T | XP_005256141.1:n.-8-2388C>T | |
| XM_006721242.2:c.-8-2388C>T | XP_006721305.1:n.-8-2388C>T | |
| XM_006721243.2:c.-8-2388C>T | XP_006721306.1:n.-8-2388C>T | |
| XM_011523258.1:c.-38+3438C>T | XP_011521560.1:n.-38+3438C>T | |
| XM_011523260.1:c.-8-2388C>T | XP_011521562.1:n.-8-2388C>T | |
| XM_011523261.1:c.-8-2388C>T | XP_011521563.1:n.-8-2388C>T | |
| XR_429725.2:n.83-2388C>T | ||
| XR_429726.2:n.83-2388C>T | ||
| XR_933387.1:n.83-2388C>T | ||
| XM_005256084.4:c.-8-2388C>T | XP_005256141.1:n.-8-2388C>T | |
| XM_006721242.4:c.-8-2388C>T | XP_006721305.1:n.-8-2388C>T | |
| XM_006721243.4:c.-8-2388C>T | XP_006721306.1:n.-8-2388C>T | |
| XM_011523260.3:c.-8-2388C>T | XP_011521562.1:n.-8-2388C>T | |
| XM_011523261.2:c.-8-2388C>T | XP_011521563.1:n.-8-2388C>T | |
| XM_017023536.1:c.-127+3438C>T | XP_016879025.1:n.-127+3438C>T | |
| XM_017023537.1:c.-21+3438C>T | XP_016879026.1:n.-21+3438C>T | |
| XR_429725.3:n.36-2388C>T | ||
| XR_429726.3:n.36-2388C>T | ||
| XR_933387.2:n.36-2388C>T | ||
| NM_001370466.1:c.-8-2388C>T MANE Select | NP_001357395.1:n.-8-2388C>T | |
| NM_022162.3:c.-144C>T | NP_071445.1:n.-144C>T | |
| NR_163434.1:n.58-2388C>T |