Linked Data
dbSNP Id:
rs11175593
gnomAD v2:
12-40601940-C-T
gnomAD v3:
12-40208138-C-T
gnomAD v4:
12-40208138-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40208138C>T , CM000674.2:g.40208138C>T | GRCh38 |
| NC_000012.11:g.40601940C>T , CM000674.1:g.40601940C>T | GRCh37 |
| NC_000012.10:g.38888207C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416796.5:c.-63+11365C>T | ENSP00000398726.1:n.-63+11365C>T | |
| XR_944865.1:n.290+141C>T | ||
| XR_944865.3:n.521+141C>T |