Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123760G>A , CM000666.2:g.46123760G>A | GRCh38 |
| NC_000004.11:g.46125777G>A , CM000666.1:g.46125777G>A | GRCh37 |
| NC_000004.10:g.45820534G>A | NCBI36 |
| NG_046964.1:g.5306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.104+50C>T MANE Select | ENSP00000295452.4:n.104+50C>T | |
| ENST00000295452.4:c.104+50C>T | ENSP00000295452.4:n.104+50C>T | |
| NM_173536.3:c.104+50C>T | NP_775807.2:n.104+50C>T | |
| NM_173536.4:c.104+50C>T MANE Select | NP_775807.2:n.104+50C>T |