Linked Data
ClinVar Variation Id:
2146612
ClinVar RCV Id:
RCV003067221
dbSNP Id:
rs369807016
gnomAD v2:
8-61773557-G-A
gnomAD v3:
8-60860998-G-A
gnomAD v4:
8-60860998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860998G>A , CM000670.2:g.60860998G>A | GRCh38 |
| NC_000008.10:g.61773557G>A , CM000670.1:g.61773557G>A | GRCh37 |
| NC_000008.9:g.61936111G>A | NCBI36 |
| NG_007009.1:g.187219G>A , LRG_176:g.187219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.879G>A | ||
| ENST00000695851.1:n.83G>A | ||
| ENST00000695853.1:c.*762G>A | ENSP00000512218.1:n.*762G>A | |
| ENST00000423902.7:c.7703G>A MANE Select | ENSP00000392028.1:p.Arg2568Gln | |
| ENST00000423902.6:c.7703G>A | ENSP00000392028.1:p.Arg2568Gln | |
| ENST00000524602.5:c.1717-1231G>A | ENSP00000437061.1:n.1717-1231G>A | |
| ENST00000531695.1:n.127G>A | ||
| ENST00000618450.1:n.95G>A | ||
| NM_001316690.1:c.1717-1231G>A | NP_001303619.1:n.1717-1231G>A | |
| NM_017780.3:c.7703G>A | NP_060250.2:p.Arg2568Gln | |
| XM_011517553.1:c.7793G>A | XP_011515855.1:p.Arg2598Gln | |
| XM_011517554.1:c.7793G>A | XP_011515856.1:p.Arg2598Gln | |
| XM_011517555.1:c.7790G>A | XP_011515857.1:p.Arg2597Gln | |
| XM_011517556.1:c.7699-1198G>A | XP_011515858.1:n.7699-1198G>A | |
| XM_011517557.1:c.5780G>A | XP_011515859.1:p.Arg1927Gln | |
| XM_011517558.1:c.5330G>A | XP_011515860.1:p.Arg1777Gln | |
| XM_011517559.1:c.4538G>A | XP_011515861.1:p.Arg1513Gln | |
| XM_011517553.2:c.7793G>A | XP_011515855.1:p.Arg2598Gln | |
| XM_011517554.3:c.7793G>A | XP_011515856.1:p.Arg2598Gln | |
| XM_011517555.2:c.7790G>A | XP_011515857.1:p.Arg2597Gln | |
| XM_017013612.1:c.7793G>A | XP_016869101.1:p.Arg2598Gln | |
| XM_017013613.1:c.7700G>A | XP_016869102.1:p.Arg2567Gln | |
| NM_017780.4:c.7703G>A MANE Select | NP_060250.2:p.Arg2568Gln |