Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085045G= , CM000684.2:g.17085045G= | GRCh38 |
| NC_000022.10:g.17565935G= , CM000684.1:g.17565935G= | GRCh37 |
| NC_000022.9:g.15945935G= | NCBI36 |
| NG_028257.1:g.5085G= , LRG_355:g.5085G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000694948.1:n.52G= | ||
| ENST00000694949.1:n.49G= | ||
| ENST00000694950.1:c.34G= | ||
| ENST00000319363.11:c.-47G= MANE Select | ENSP00000320936.6:n.-47G= | |
| ENST00000319363.10:c.-47G= | ENSP00000320936.6:n.-47G= | |
| ENST00000477874.1:n.92G= | ||
| ENST00000612619.1:c.-47G= | ENSP00000479970.1:n.-47G= | |
| NM_001289905.1:c.-47G= | NP_001276834.1:n.-47G= | |
| NM_014339.6:c.-47G= , LRG_355t1:c.-47G= | NP_055154.3:n.-47G= | |
| NM_014339.7:c.-47G= MANE Select | NP_055154.3:n.-47G= | |
| NM_001289905.2:c.-47G= | NP_001276834.1:n.-47G= |