Linked Data
dbSNP Id:
rs3758549
gnomAD v2:
10-104004195-G-A
gnomAD v3:
10-102244438-G-A
gnomAD v4:
10-102244438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102244438G>A , CM000672.2:g.102244438G>A | GRCh38 |
| NC_000010.10:g.104004195G>A , CM000672.1:g.104004195G>A | GRCh37 |
| NC_000010.9:g.103994185G>A | NCBI36 |
| NG_008147.1:g.2037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001391923.1:c.-11+13522G>A | NP_001378852.1:n.-11+13522G>A | |
| NM_001391924.1:c.-148-1206G>A | NP_001378853.1:n.-148-1206G>A |