Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877877C>A , CM000670.2:g.6877877C>A | GRCh38 |
| NC_000008.10:g.6735399C>A , CM000670.1:g.6735399C>A | GRCh37 |
| NC_000008.9:g.6722809C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297439.4:c.-20G>T MANE Select | ENSP00000297439.3:n.-20G>T | |
| ENST00000297439.3:c.-20G>T | ENSP00000297439.3:n.-20G>T | |
| NM_005218.3:c.-20G>T | NP_005209.1:n.-20G>T | |
| NM_005218.4:c.-20G>T MANE Select | NP_005209.1:n.-20G>T |