Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19250926G= , CM000681.2:g.19250926G= | GRCh38 |
| NC_000019.9:g.19361735G= , CM000681.1:g.19361735G= | GRCh37 |
| NC_000019.8:g.19222735G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004386.3:c.*1015G= MANE Select | NP_004377.2:n.*1015G= |
| ENST00000252575.11:c.*1015G= MANE Select | ENSP00000252575.4:n.*1015G= |
| NM_004386.2:c.*1015G= | NP_004377.2:n.*1015G= |
| ENST00000252575.10:c.*1015G= | ENSP00000252575.4:n.*1015G= |
| XM_005259747.1:c.*1015G= | XP_005259804.1:n.*1015G= |