Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177415473T>A , CM000667.2:g.177415473T>A | GRCh38 |
| NC_000005.9:g.176842474T>A , CM000667.1:g.176842474T>A | GRCh37 |
| NC_000005.8:g.176775080T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000502598.5:c.-45+11947T>A (GRK6) | ENSP00000422873.1:n.-45+11947T>A |
| ENST00000506296.5:c.-45+10916T>A (GRK6) | ENSP00000421055.1:n.-45+10916T>A |
| ENST00000696200.1:n.78+1033A>T (F12) | |
| XM_011534461.1:c.-26+1033A>T (F12) | XP_011532763.1:n.-26+1033A>T |