Linked Data
dbSNP Id:
rs10788972
gnomAD v2:
1-54572243-C-A
gnomAD v3:
1-54106570-C-A
gnomAD v4:
1-54106570-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54106570C>A , CM000663.2:g.54106570C>A | GRCh38 |
| NC_000001.10:g.54572243C>A , CM000663.1:g.54572243C>A | GRCh37 |
| NC_000001.9:g.54344831C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648983.1:c.*372-4482C>A | ENSP00000498109.1:n.*372-4482C>A | |
| ENST00000498272.1:n.1071-4482C>A | ||
| NR_130900.1:n.1086-4482C>A | ||
| XM_017000293.1:c.439-4482C>A | XP_016855782.1:n.439-4482C>A | |
| NR_130900.2:n.1050-4482C>A |