Linked Data
gnomAD v4:
11-6390427-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390427C>A , CM000673.2:g.6390427C>A | GRCh38 |
| NC_000011.9:g.6411657C>A , CM000673.1:g.6411657C>A | GRCh37 |
| NC_000011.8:g.6368233C>A | NCBI36 |
| NG_011780.1:g.5003C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000543.4:c.-172C>A | NP_000534.3:n.-172C>A | |
| NM_001007593.2:c.-172C>A | NP_001007594.2:n.-172C>A | |
| XM_005253075.3:c.-172C>A | XP_005253132.1:n.-172C>A | |
| XM_011520303.1:c.-172C>A | XP_011518605.1:n.-172C>A | |
| XM_011520304.1:c.-172C>A | XP_011518606.1:n.-172C>A | |
| XR_930886.1:n.127C>A | ||
| NM_001318087.1:c.-172C>A | NP_001305016.1:n.-172C>A | |
| NM_001318088.1:c.-1133C>A | NP_001305017.1:n.-1133C>A | |
| NR_027400.2:n.14C>A | ||
| NR_134502.1:n.14C>A |