dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111079821A>T , CM000672.2:g.111079821A>T | GRCh38 |
| NC_000010.10:g.112839579A>T , CM000672.1:g.112839579A>T | GRCh37 |
| NC_000010.9:g.112829569A>T | NCBI36 |
| NG_012020.1:g.7790A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280155.4:c.*427A>T MANE Select | ENSP00000280155.2:n.*427A>T | |
| ENST00000280155.3:c.*427A>T | ENSP00000280155.2:n.*427A>T | |
| NM_000681.3:c.*427A>T | NP_000672.3:n.*427A>T | |
| NM_000681.4:c.*427A>T MANE Select | NP_000672.3:n.*427A>T |