Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247226C= , CM000681.2:g.39247226C= | GRCh38 |
| NC_000019.9:g.39737866C= , CM000681.1:g.39737866C= | GRCh37 |
| NC_000019.8:g.44429706C= | NCBI36 |
| NG_042193.1:g.2746G= | |
| NG_055295.1:g.6631G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_074079.1:n.725G= | |
| ENST00000606380.2:c.448G= | ENSP00000476098.1:p.Ala150= |
| ENST00000610963.1:c.447G= | ENSP00000481371.1:p.Ser149= |
| ENST00000616270.4:c.422+242G= | ENSP00000480679.1:n.422+242G= |
| ENST00000634680.1:c.232G= | ENSP00000489240.1:p.Ala78= |
| ENST00000634967.1:c.304G= | ENSP00000489559.1:p.Ala102= |