Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12580371C= , CM000681.2:g.12580371C= | GRCh38 |
| NC_000019.9:g.12691185C= , CM000681.1:g.12691185C= | GRCh37 |
| NC_000019.8:g.12552185C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020714.3:c.*114G= MANE Select | NP_065765.1:n.*114G= |
| ENST00000311437.11:c.*114G= MANE Select | ENSP00000311521.6:n.*114G= |
| NM_020714.2:c.*114G= | NP_065765.1:n.*114G= |
| ENST00000311437.10:c.*114G= | ENSP00000311521.6:n.*114G= |
| ENST00000593682.1:c.605G= |