Linked Data
dbSNP Id:
rs9686661
gnomAD v2:
5-55861786-C-T
gnomAD v3:
5-56565959-C-T
gnomAD v4:
5-56565959-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56565959C>T , CM000667.2:g.56565959C>T | GRCh38 |
| NC_000005.9:g.55861786C>T , CM000667.1:g.55861786C>T | GRCh37 |
| NC_000005.8:g.55897543C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438651.5:c.-15-9772G>A | ENSP00000406718.1:n.-15-9772G>A | |
| NM_001287053.1:c.-15-9772G>A | NP_001273982.1:n.-15-9772G>A | |
| XM_017008942.1:c.-16+4419G>A | XP_016864431.1:n.-16+4419G>A | |
| NR_161255.1:n.236-9772G>A |