dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22812893C>A , CM000669.2:g.22812893C>A | GRCh38 |
| NC_000007.13:g.22852512C>A , CM000669.1:g.22852512C>A | GRCh37 |
| NC_000007.12:g.22819037C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358435.8:c.*277G>T | ENSP00000351214.4:n.*277G>T | |
| ENST00000463284.2:n.466G>T | ||
| NM_019059.3:c.*277G>T | NP_061932.1:n.*277G>T | |
| NM_019059.4:c.*277G>T | NP_061932.1:n.*277G>T |