Linked Data
dbSNP Id:
rs111816579
gnomAD v2:
10-120970116-A-T
gnomAD v3:
10-119210604-A-T
gnomAD v4:
10-119210604-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119210604A>T , CM000672.2:g.119210604A>T | GRCh38 |
| NC_000010.10:g.120970116A>T , CM000672.1:g.120970116A>T | GRCh37 |
| NC_000010.9:g.120960106A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392870.3:c.52+2635A>T (GRK5) MANE Select | ENSP00000376609.2:n.52+2635A>T | |
| ENST00000392870.2:c.52+2635A>T (GRK5) | ENSP00000376609.2:n.52+2635A>T | |
| NM_005308.2:c.52+2635A>T (GRK5) | NP_005299.1:n.52+2635A>T | |
| XM_005269707.1:c.52+2635A>T (GRK5) | XP_005269764.1:n.52+2635A>T | |
| XM_005269708.1:c.52+2635A>T (GRK5) | XP_005269765.1:n.52+2635A>T | |
| XR_246196.2:n.583-877A>T (GRK5-IT1) | ||
| XM_005269707.2:c.52+2635A>T (GRK5) | XP_005269764.1:n.52+2635A>T | |
| XR_246196.4:n.669-877A>T (GRK5-IT1) | ||
| NM_005308.3:c.52+2635A>T (GRK5) MANE Select | NP_005299.1:n.52+2635A>T |