Linked Data
dbSNP Id:
rs2012709
gnomAD v2:
5-32567732-C-T
gnomAD v3:
5-32567626-C-T
gnomAD v4:
5-32567626-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32567626C>T , CM000667.2:g.32567626C>T | GRCh38 |
| NC_000005.9:g.32567732C>T , CM000667.1:g.32567732C>T | GRCh37 |
| NC_000005.8:g.32603489C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506237.5:c.-1-20886C>T | ENSP00000422078.1:n.-1-20886C>T | |
| ENST00000512913.5:c.-85-3465C>T | ENSP00000422806.1:n.-85-3465C>T | |
| ENST00000513013.5:n.127-3465C>T | ||
| XR_925899.1:n.712-3465C>T | ||
| XM_017008986.1:c.-85-3465C>T | XP_016864475.1:n.-85-3465C>T | |
| XM_017008987.1:c.-85-3465C>T | XP_016864476.1:n.-85-3465C>T |