Linked Data
dbSNP Id:
rs12731740
gnomAD v2:
1-208024820-C-T
gnomAD v3:
1-207851475-C-T
gnomAD v4:
1-207851475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207851475C>T , CM000663.2:g.207851475C>T | GRCh38 |
| NC_000001.10:g.208024820C>T , CM000663.1:g.208024820C>T | GRCh37 |
| NC_000001.9:g.206091443C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_922491.1:n.143+16451G>A |