dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60088555T>A , CM000673.2:g.60088555T>A | GRCh38 |
| NC_000011.9:g.59856028T>A , CM000673.1:g.59856028T>A | GRCh37 |
| NC_000011.8:g.59612604T>A | NCBI36 |
| NG_016014.1:g.4892T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524868.1:c.-123T>A | ENSP00000433311.1:n.-123T>A | |
| XM_005273846.3:c.-102T>A | XP_005273903.1:n.-102T>A | |
| XM_011544850.1:c.-16-195T>A | XP_011543152.1:n.-16-195T>A | |
| XM_005273846.4:c.-102T>A | XP_005273903.1:n.-102T>A | |
| XM_011544850.2:c.-16-195T>A | XP_011543152.1:n.-16-195T>A | |
| XM_017017362.1:c.-102T>A | XP_016872851.1:n.-102T>A |