Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177409589G= , CM000667.2:g.177409589G= | GRCh38 |
| NC_000005.9:g.176836590G= , CM000667.1:g.176836590G= | GRCh37 |
| NC_000005.8:g.176769196G= | NCBI36 |
| NG_007568.1:g.4988C= , LRG_145:g.4988C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000502598.5:c.-45+6063G= (GRK6) | ENSP00000422873.1:n.-45+6063G= |
| ENST00000506296.5:c.-45+5032G= (GRK6) | ENSP00000421055.1:n.-45+5032G= |
| ENST00000696200.1:n.79-37C= (F12) | |
| XM_011534461.1:c.-25-37C= (F12) | XP_011532763.1:n.-25-37C= |
| XM_017009773.2:c.1417-2175G= (SLC34A1) | XP_016865262.1:n.1417-2175G= |