dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177414338T>A , CM000667.2:g.177414338T>A | GRCh38 |
| NC_000005.9:g.176841339T>A , CM000667.1:g.176841339T>A | GRCh37 |
| NC_000005.8:g.176773945T>A | NCBI36 |
| NG_007568.1:g.239A>T , LRG_145:g.239A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696200.1:n.78+2168A>T (F12) | ||
| ENST00000502598.5:c.-45+10812T>A (GRK6) | ENSP00000422873.1:n.-45+10812T>A | |
| ENST00000506296.5:c.-45+9781T>A (GRK6) | ENSP00000421055.1:n.-45+9781T>A | |
| XM_011534461.1:c.-26+2168A>T (F12) | XP_011532763.1:n.-26+2168A>T |