Linked Data
dbSNP Id:
rs1363697740
gnomAD v2:
6-31531312-T-A
gnomAD v3:
6-31563535-T-A
gnomAD v4:
6-31563535-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31563535T>A , CM000668.2:g.31563535T>A | GRCh38 |
| NC_000006.11:g.31531312T>A , CM000668.1:g.31531312T>A | GRCh37 |
| NC_000006.10:g.31639291T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514614.1:c.-342+2266T>A | XP_011512916.1:n.-342+2266T>A | |
| XM_011514615.1:c.-342+1068T>A | XP_011512917.1:n.-342+1068T>A | |
| XM_011514616.1:c.-178+2266T>A | XP_011512918.1:n.-178+2266T>A | |
| XM_011514617.1:c.-342+2266T>A | XP_011512919.1:n.-342+2266T>A | |
| XM_011514618.1:c.-342+2266T>A | XP_011512920.1:n.-342+2266T>A | |
| XR_926695.1:n.116+9048A>T | ||
| NR_149045.1:n.122-2813A>T | ||
| XM_011514615.2:c.-342+1068T>A | XP_011512917.1:n.-342+1068T>A | |
| XM_011514616.2:c.-178+2266T>A | XP_011512918.1:n.-178+2266T>A | |
| XM_011514617.2:c.-342+2266T>A | XP_011512919.1:n.-342+2266T>A |