Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766909C>T , CM000681.2:g.45766909C>T | GRCh38 |
| NC_000019.9:g.46270167C>T , CM000681.1:g.46270167C>T | GRCh37 |
| NC_000019.8:g.50962007C>T | NCBI36 |
| NG_012745.1:g.7331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1050G>A MANE Select | ENSP00000316842.4:p.Leu350= | |
| ENST00000317578.6:c.1050G>A | ENSP00000316842.4:p.Leu350= | |
| ENST00000560160.1:c.587-798G>A | ||
| ENST00000560168.1:c.*238G>A | ENSP00000453189.2:n.*238G>A | |
| ENST00000622857.1:c.16-947G>A | ENSP00000481365.1:n.16-947G>A | |
| NM_175875.4:c.1050G>A | NP_787071.2:p.Leu350= | |
| NM_175875.5:c.1050G>A MANE Select | NP_787071.3:p.Leu350= |