Linked Data
ClinVar Variation Id:
368156
dbSNP Id:
rs5951494
ExAC:
X:22051091 C / T
gnomAD v2:
X-22051091-C-T
gnomAD v3:
X-22032973-C-T
gnomAD v4:
X-22032973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22032973C>T , CM000685.2:g.22032973C>T | GRCh38 |
| NC_000023.10:g.22051091C>T , CM000685.1:g.22051091C>T | GRCh37 |
| NC_000023.9:g.21961012C>T | NCBI36 |
| NG_007563.2:g.5171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.394C>T | ||
| ENST00000683214.1:n.394C>T | ||
| ENST00000684143.1:c.-33C>T | ENSP00000508264.1:n.-33C>T | |
| ENST00000379374.5:c.-33C>T MANE Select | ENSP00000368682.4:n.-33C>T | |
| ENST00000379374.4:c.-33C>T | ENSP00000368682.4:n.-33C>T | |
| NM_000444.5:c.-33C>T | NP_000435.3:n.-33C>T | |
| NM_001282754.1:c.-33C>T | NP_001269683.1:n.-33C>T | |
| XM_011545535.1:c.-33C>T | XP_011543837.1:n.-33C>T | |
| XR_001755695.1:n.647C>T | ||
| NM_000444.6:c.-33C>T MANE Select | NP_000435.3:n.-33C>T | |
| NM_001282754.2:c.-33C>T | NP_001269683.1:n.-33C>T |