dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69775191A>T , CM000673.2:g.69775191A>T | GRCh38 |
| NC_000011.9:g.69589959A>T , CM000673.1:g.69589959A>T | GRCh37 |
| NC_000011.8:g.69299140A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000168712.3:c.-107T>A MANE Select | ENSP00000168712.1:n.-107T>A | |
| ENST00000168712.2:c.-107T>A | ENSP00000168712.1:n.-107T>A | |
| NM_002007.2:c.-107T>A | NP_001998.1:n.-107T>A | |
| NM_002007.3:c.-107T>A | NP_001998.1:n.-107T>A | |
| NM_002007.4:c.-107T>A MANE Select | NP_001998.1:n.-107T>A |