Linked Data
ClinVar Variation Id:
879709
ClinVar RCV Id:
RCV001107411
dbSNP Id:
rs1835892283
gnomAD v4:
10-25934324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.25934324C>T , CM000672.2:g.25934324C>T | GRCh38 |
| NC_000010.10:g.26223253C>T , CM000672.1:g.26223253C>T | GRCh37 |
| NC_000010.9:g.26263259C>T | NCBI36 |
| NG_011635.1:g.5252C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642197.1:n.96C>T | ||
| ENST00000642920.2:c.-109C>T MANE Select | ENSP00000495965.1:n.-109C>T | |
| ENST00000265944.9:c.-109C>T | ENSP00000265944.4:n.-109C>T | |
| ENST00000376302.5:c.-109C>T | ENSP00000365479.1:n.-109C>T | |
| NM_017433.4:c.-109C>T | NP_059129.3:n.-109C>T | |
| XM_011519500.1:c.-166C>T | XP_011517802.1:n.-166C>T | |
| XM_011519501.1:c.-22C>T | XP_011517803.1:n.-22C>T | |
| XM_011519502.1:c.-109C>T | XP_011517804.1:n.-109C>T | |
| XM_011519503.1:c.-109C>T | XP_011517805.1:n.-109C>T | |
| XM_011519504.1:c.-109C>T | XP_011517806.1:n.-109C>T | |
| XM_011519505.1:c.-109C>T | XP_011517807.1:n.-109C>T | |
| XM_011519506.1:c.-109C>T | XP_011517808.1:n.-109C>T | |
| XM_011519508.1:c.-109C>T | XP_011517810.1:n.-109C>T | |
| XM_011519509.1:c.-109C>T | XP_011517811.1:n.-109C>T | |
| XM_011519510.1:c.-109C>T | XP_011517812.1:n.-109C>T | |
| XM_011519511.1:c.-109C>T | XP_011517813.1:n.-109C>T | |
| XR_930492.1:n.96C>T | ||
| XR_930493.1:n.96C>T | ||
| XR_930494.1:n.96C>T | ||
| XM_011519500.2:c.-166C>T | XP_011517802.1:n.-166C>T | |
| XM_011519506.2:c.-109C>T | XP_011517808.1:n.-109C>T | |
| XM_011519508.2:c.-109C>T | XP_011517810.1:n.-109C>T | |
| XM_011519510.2:c.-109C>T | XP_011517812.1:n.-109C>T | |
| XM_011519511.2:c.-109C>T | XP_011517813.1:n.-109C>T | |
| XR_001747111.1:n.96C>T | ||
| NM_017433.5:c.-109C>T MANE Select | NP_059129.3:n.-109C>T | |
| NM_001368265.1:c.-109C>T | NP_001355194.1:n.-109C>T |