dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121018070C>A , CM000674.2:g.121018070C>A | GRCh38 |
| NC_000012.11:g.121455873C>A , CM000674.1:g.121455873C>A | GRCh37 |
| NC_000012.10:g.119940256C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680620.1:c.*907G>T | ENSP00000505685.1:n.*907G>T | |
| NM_001395418.1:c.*998G>T | NP_001382347.1:n.*998G>T | |
| NM_001395419.1:c.*907G>T | NP_001382348.1:n.*907G>T |