Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68154888T>A , CM000674.2:g.68154888T>A | GRCh38 |
| NC_000012.11:g.68548668T>A , CM000674.1:g.68548668T>A | GRCh37 |
| NC_000012.10:g.66834935T>A | NCBI36 |
| NG_015840.1:g.9854A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229135.4:c.*465A>T MANE Select | ENSP00000229135.3:n.*465A>T | |
| ENST00000229135.3:c.*465A>T | ENSP00000229135.3:n.*465A>T | |
| NM_000619.2:c.*465A>T | NP_000610.2:n.*465A>T | |
| NM_000619.3:c.*465A>T MANE Select | NP_000610.2:n.*465A>T |