Linked Data
dbSNP Id:
rs245111
gnomAD v2:
19-50528897-C-T
gnomAD v3:
19-50025640-C-T
gnomAD v4:
19-50025640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50025640C>T , CM000681.2:g.50025640C>T | GRCh38 |
| NC_000019.9:g.50528897C>T , CM000681.1:g.50528897C>T | GRCh37 |
| NC_000019.8:g.55220709C>T | NCBI36 |
| NG_051198.1:g.4835C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000596445.5:c.-65+28G>A | ENSP00000469092.1:n.-65+28G>A | |
| ENST00000599538.5:c.-359G>A | ENSP00000469880.1:n.-359G>A | |
| XM_005258972.2:c.-359G>A | XP_005259029.1:n.-359G>A |