Linked Data
ClinVar Variation Id:
368452
ClinVar RCV Id:
RCV000339483
dbSNP Id:
rs150603792
gnomAD v2:
X-48755706-C-T
gnomAD v3:
X-48898423-C-T
gnomAD v4:
X-48898423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48898423C>T , CM000685.2:g.48898423C>T | GRCh38 |
| NC_000023.10:g.48755706C>T , CM000685.1:g.48755706C>T | GRCh37 |
| NC_000023.9:g.48640650C>T | NCBI36 |
| NG_015967.1:g.5512C>T | |
| NG_015968.2:g.4727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218224.9:c.-87C>T | ENSP00000218224.4:n.-87C>T | |
| ENST00000376563.6:c.-18-69C>T | ENSP00000365747.1:n.-18-69C>T | |
| ENST00000396763.6:c.-18-69C>T | ENSP00000379985.1:n.-18-69C>T | |
| ENST00000443648.6:c.-18-69C>T | ENSP00000414861.2:n.-18-69C>T | |
| ENST00000456306.2:c.-258+73C>T | ENSP00000393013.2:n.-258+73C>T | |
| ENST00000472742.6:c.-18-69C>T | ENSP00000509191.1:n.-18-69C>T | |
| ENST00000473764.6:n.339C>T | ||
| ENST00000474671.6:n.164-69C>T | ||
| ENST00000477997.6:n.90-69C>T | ||
| ENST00000486150.6:n.74-69C>T | ||
| ENST00000692023.1:c.-87C>T | ENSP00000509927.1:n.-87C>T | |
| ENST00000447146.7:c.-18-69C>T MANE Select | ENSP00000391759.2:n.-18-69C>T | |
| ENST00000651767.1:c.-18-69C>T | ENSP00000498362.1:n.-18-69C>T | |
| ENST00000218224.8:c.-87C>T | ENSP00000218224.4:n.-87C>T | |
| ENST00000247140.8:c.-18-69C>T | ENSP00000247140.4:n.-18-69C>T | |
| ENST00000376563.5:c.-18-69C>T | ENSP00000365747.1:n.-18-69C>T | |
| ENST00000376566.8:c.-18-69C>T | ENSP00000365750.4:n.-18-69C>T | |
| ENST00000396763.5:c.-18-69C>T | ENSP00000379985.1:n.-18-69C>T | |
| ENST00000443648.5:c.-18-69C>T | ENSP00000414861.1:n.-18-69C>T | |
| ENST00000447146.6:c.-18-69C>T | ENSP00000391759.2:n.-18-69C>T | |
| ENST00000456306.1:c.33+73C>T | ||
| ENST00000470062.5:n.88-69C>T | ||
| ENST00000472742.5:n.152-69C>T | ||
| ENST00000473764.5:n.486C>T | ||
| ENST00000474671.5:n.43-69C>T | ||
| ENST00000477997.5:n.64-69C>T | ||
| ENST00000486150.5:n.478C>T | ||
| NM_001032381.1:c.-18-69C>T | NP_001027553.1:n.-18-69C>T | |
| NM_001032382.1:c.-18-69C>T | NP_001027554.1:n.-18-69C>T | |
| NM_001032383.1:c.-18-69C>T | NP_001027555.1:n.-18-69C>T | |
| NM_001032384.1:c.-18-69C>T | NP_001027556.1:n.-18-69C>T | |
| NM_001167989.1:c.-18-69C>T | NP_001161461.1:n.-18-69C>T | |
| NM_001167990.1:c.-18-69C>T | NP_001161462.1:n.-18-69C>T | |
| NM_005710.2:c.-87C>T | NP_005701.1:n.-87C>T | |
| NM_144495.2:c.-18-69C>T | NP_652766.1:n.-18-69C>T | |
| XM_005272571.3:c.-18-69C>T | XP_005272628.1:n.-18-69C>T | |
| XM_005272572.3:c.-18-69C>T | XP_005272629.1:n.-18-69C>T | |
| XM_011543884.1:c.-18-69C>T | XP_011542186.1:n.-18-69C>T | |
| XM_005272572.4:c.-18-69C>T | XP_005272629.1:n.-18-69C>T | |
| XM_011543884.2:c.-18-69C>T | XP_011542186.1:n.-18-69C>T | |
| XM_017029207.1:c.-18-69C>T | XP_016884696.1:n.-18-69C>T | |
| NM_001032381.2:c.-18-69C>T | NP_001027553.1:n.-18-69C>T | |
| NM_001032382.2:c.-18-69C>T MANE Select | NP_001027554.1:n.-18-69C>T | |
| NM_001032383.2:c.-18-69C>T | NP_001027555.1:n.-18-69C>T | |
| NM_001167989.2:c.-18-69C>T | NP_001161461.1:n.-18-69C>T | |
| NM_001167990.2:c.-18-69C>T | NP_001161462.1:n.-18-69C>T | |
| NM_144495.3:c.-18-69C>T | NP_652766.1:n.-18-69C>T |