Linked Data
ClinVar Variation Id:
188316
ClinVar RCV Id:
RCV000168313
RCV000213407
RCV000589584
RCV000735967
RCV001580463
RCV003462262
RCV003995623
dbSNP Id:
rs200252727
gnomAD v2:
2-47705554-A-G
gnomAD v3:
2-47478415-A-G
gnomAD v4:
2-47478415-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47478415A>G , CM000664.2:g.47478415A>G | GRCh38 |
| NC_000002.11:g.47705554A>G , CM000664.1:g.47705554A>G | GRCh37 |
| NC_000002.10:g.47559058A>G | NCBI36 |
| NG_007110.2:g.80292A>G , LRG_218:g.80292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2354A>G | ENSP00000495641.2:p.His785Arg | |
| ENST00000233146.7:c.2354A>G MANE Select | ENSP00000233146.2:p.His785Arg | |
| ENST00000543555.6:c.2156A>G | ENSP00000442697.1:p.His719Arg | |
| ENST00000644092.1:c.*654A>G | ENSP00000496351.1:n.*654A>G | |
| ENST00000644900.1:c.207A>G | ||
| ENST00000645339.1:c.2354A>G | ENSP00000496441.1:p.His785Arg | |
| ENST00000645506.1:c.2354A>G | ENSP00000495455.1:p.His785Arg | |
| ENST00000646415.1:c.2354A>G | ENSP00000495543.1:p.His785Arg | |
| ENST00000233146.6:c.2354A>G | ENSP00000233146.2:p.His785Arg | |
| ENST00000406134.5:c.2354A>G | ENSP00000384199.1:p.His785Arg | |
| ENST00000543555.5:c.2156A>G | ENSP00000442697.1:p.His719Arg | |
| ENST00000610696.4:c.*750A>G | ENSP00000483159.1:n.*750A>G | |
| ENST00000613514.4:c.*894A>G | ENSP00000484137.1:n.*894A>G | |
| ENST00000617333.3:c.*1120A>G | ENSP00000482468.1:n.*1120A>G | |
| ENST00000617938.4:c.*1326A>G | ENSP00000481158.1:n.*1326A>G | |
| ENST00000621359.2:c.2353A>G | ENSP00000481416.1:p.Met785Val | |
| NM_000251.2:c.2354A>G , LRG_218t1:c.2354A>G | NP_000242.1:p.His785Arg | |
| NM_001258281.1:c.2156A>G | NP_001245210.1:p.His719Arg | |
| XM_005264332.2:c.2354A>G | XP_005264389.2:p.His785Arg | |
| XM_011532867.1:c.2354A>G | XP_011531169.1:p.His785Arg | |
| XR_939685.1:n.2426A>G | ||
| XM_005264332.4:c.2354A>G | XP_005264389.2:p.His785Arg | |
| XM_011532867.2:c.2354A>G | XP_011531169.1:p.His785Arg | |
| XR_001738747.2:n.2416A>G | ||
| XR_939685.2:n.2416A>G | ||
| NM_000251.3:c.2354A>G MANE Select | NP_000242.1:p.His785Arg |