Linked Data
dbSNP Id:
rs937259480
gnomAD v2:
2-217905864-C-T
gnomAD v3:
2-217041141-C-T
gnomAD v4:
2-217041141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217041141C>T , CM000664.2:g.217041141C>T | GRCh38 |
| NC_000002.11:g.217905864C>T , CM000664.1:g.217905864C>T | GRCh37 |
| NC_000002.10:g.217614109C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_923881.1:n.299+47123C>T | ||
| XR_923883.1:n.294+47123C>T | ||
| XR_923885.1:n.862+47123C>T | ||
| XR_923886.1:n.359-14050C>T | ||
| XR_923887.1:n.300-14050C>T | ||
| XR_001739169.1:n.11844+47123C>T | ||
| XR_001739170.2:n.8480+47123C>T | ||
| XR_001739171.2:n.8347+47123C>T | ||
| XR_923878.2:n.7454C>T |