Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35187397G= , CM000682.2:g.35187397G= | GRCh38 |
| NC_000020.10:g.33775200G= , CM000682.1:g.33775200G= | GRCh37 |
| NC_000020.9:g.33238861G= | NCBI36 |
| NG_032899.2:g.20427G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001355008.1:c.-101-21526C= | NP_001341937.1:n.-101-21526C= |
| NM_001355008.2:c.-101-21526C= | NP_001341937.1:n.-101-21526C= |
| ENST00000634509.1:c.94+10951G= | ENSP00000489456.1:n.94+10951G= |
| ENST00000635377.1:c.630+10182G= | |
| XM_011528496.1:c.601+10951G= | XP_011526798.1:n.601+10951G= |