Linked Data
dbSNP Id:
rs982872506
gnomAD v2:
5-54529437-G-A
gnomAD v3:
5-55233609-G-A
gnomAD v4:
5-55233609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233609G>A , CM000667.2:g.55233609G>A | GRCh38 |
| NC_000005.9:g.54529437G>A , CM000667.1:g.54529437G>A | GRCh37 |
| NC_000005.8:g.54565194G>A | NCBI36 |
| NG_034201.1:g.5109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-86C>T | ENSP00000282572.4:n.-86C>T | |
| NM_021147.4:c.-86C>T | NP_066970.3:n.-86C>T | |
| NR_125346.1:n.109C>T | ||
| NR_125347.1:n.109C>T |