Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247779A= , CM000681.2:g.39247779A= | GRCh38 |
| NC_000019.9:g.39738419A= , CM000681.1:g.39738419A= | GRCh37 |
| NC_000019.8:g.44430259A= | NCBI36 |
| NG_042193.1:g.2193T= | |
| NG_055295.1:g.6078T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.296T= | ENSP00000476098.1:p.Leu99= | |
| ENST00000610963.1:c.295T= | ENSP00000481371.1:p.Ser99= | |
| ENST00000616270.4:c.224-113T= | ENSP00000480679.1:n.224-113T= | |
| ENST00000634680.1:c.152-316T= | ENSP00000489240.1:n.152-316T= | |
| ENST00000634967.1:c.223+145T= | ENSP00000489559.1:n.223+145T= | |
| NR_074079.1:n.573T= |