Linked Data
dbSNP Id:
rs12137855
gnomAD v2:
1-219448378-C-T
gnomAD v3:
1-219275036-C-T
gnomAD v4:
1-219275036-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219275036C>T , CM000663.2:g.219275036C>T | GRCh38 |
| NC_000001.10:g.219448378C>T , CM000663.1:g.219448378C>T | GRCh37 |
| NC_000001.9:g.217515001C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_922608.1:n.1499+3298C>T | ||
| XR_922609.1:n.300-19025C>T | ||
| XR_922610.1:n.300-19025C>T | ||
| XR_001736963.2:n.1084-19025C>T | ||
| XR_001736967.2:n.1084+33728C>T | ||
| XR_001736968.2:n.1008+33728C>T |