Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31458160A>C , CM000680.2:g.31458160A>C | GRCh38 |
| NC_000018.9:g.29038123A>C , CM000680.1:g.29038123A>C | GRCh37 |
| NC_000018.8:g.27292121A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257189.5:c.217-285A>C MANE Select | ENSP00000257189.4:n.217-285A>C | |
| ENST00000257189.4:c.217-285A>C | ENSP00000257189.4:n.217-285A>C | |
| NM_001944.2:c.217-285A>C | NP_001935.2:n.217-285A>C | |
| XM_011525850.1:c.217-285A>C | XP_011524152.1:n.217-285A>C | |
| XM_011525850.2:c.217-285A>C | XP_011524152.1:n.217-285A>C | |
| NM_001944.3:c.217-285A>C MANE Select | NP_001935.2:n.217-285A>C |