Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753273C= , CM000663.2:g.119753273C= | GRCh38 |
| NC_000001.10:g.120295896C= , CM000663.1:g.120295896C= | GRCh37 |
| NC_000001.9:g.120097419C= | NCBI36 |
| NG_013348.1:g.20660G= , LRG_447:g.20660G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1294+7G= MANE Select | ENSP00000358414.3:n.1294+7G= | |
| ENST00000369406.7:c.1294+7G= | ENSP00000358414.3:n.1294+7G= | |
| ENST00000544913.2:c.1168+7G= | ENSP00000439495.2:n.1168+7G= | |
| NM_001166107.1:c.1168+7G= , LRG_447t2:c.1168+7G= | NP_001159579.1:n.1168+7G= | |
| NM_005518.3:c.1294+7G= , LRG_447t1:c.1294+7G= | NP_005509.1:n.1294+7G= | |
| XM_011541313.1:c.1129+7G= | XP_011539615.1:n.1129+7G= | |
| XM_011541313.2:c.1129+7G= | XP_011539615.1:n.1129+7G= | |
| NM_005518.4:c.1294+7G= MANE Select | NP_005509.1:n.1294+7G= |