Linked Data
dbSNP Id:
rs947649627
gnomAD v2:
4-3258365-C-T
gnomAD v3:
4-3256638-C-T
gnomAD v4:
4-3256638-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256638C>T , CM000666.2:g.3256638C>T | GRCh38 |
| NC_000004.11:g.3258365C>T , CM000666.1:g.3258365C>T | GRCh37 |
| NC_000004.10:g.3228163C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505599.5:c.729+781C>T | ENSP00000425405.1:n.729+781C>T | |
| ENST00000510580.1:c.765+745C>T | ENSP00000420966.1:n.765+745C>T | |
| XM_011513464.1:c.729+781C>T | XP_011511766.1:n.729+781C>T | |
| XR_924950.1:n.753+781C>T |