dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153706503T>C , CM000666.2:g.153706503T>C | GRCh38 |
| NC_000004.11:g.154627655T>C , CM000666.1:g.154627655T>C | GRCh37 |
| NC_000004.10:g.154847105T>C | NCBI36 |
| NG_016229.1:g.27215T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011532215.2:c.*1241T>C | XP_011530517.1:n.*1241T>C | |
| XM_011532216.2:c.*1241T>C | XP_011530518.1:n.*1241T>C | |
| XM_017008573.1:c.*1241T>C | XP_016864062.1:n.*1241T>C | |
| XM_017008574.1:c.*1241T>C | XP_016864063.1:n.*1241T>C | |
| XM_017008575.1:c.*1241T>C | XP_016864064.1:n.*1241T>C | |
| XM_017008576.1:c.*1241T>C | XP_016864065.1:n.*1241T>C |