Linked Data
dbSNP Id:
rs10104997
gnomAD v2:
8-55440068-C-T
gnomAD v3:
8-54527508-C-T
gnomAD v4:
8-54527508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54527508C>T , CM000670.2:g.54527508C>T | GRCh38 |
| NC_000008.10:g.55440068C>T , CM000670.1:g.55440068C>T | GRCh37 |
| NC_000008.9:g.55602621C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646684.1:n.128-5188C>T | ||
| XM_017013721.1:c.-1189-5188C>T | XP_016869210.1:n.-1189-5188C>T |