Linked Data
ClinVar Variation Id:
1790309
ClinVar RCV Id:
RCV002457782
dbSNP Id:
rs1341247425
gnomAD v2:
2-47705571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47478432G>A , CM000664.2:g.47478432G>A | GRCh38 |
| NC_000002.11:g.47705571G>A , CM000664.1:g.47705571G>A | GRCh37 |
| NC_000002.10:g.47559075G>A | NCBI36 |
| NG_007110.2:g.80309G>A , LRG_218:g.80309G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2371G>A | ENSP00000495641.2:p.Ala791Thr | |
| ENST00000233146.7:c.2371G>A MANE Select | ENSP00000233146.2:p.Ala791Thr | |
| ENST00000543555.6:c.2173G>A | ENSP00000442697.1:p.Ala725Thr | |
| ENST00000644092.1:c.*671G>A | ENSP00000496351.1:n.*671G>A | |
| ENST00000644900.1:c.224G>A | ||
| ENST00000645339.1:c.2371G>A | ENSP00000496441.1:p.Ala791Thr | |
| ENST00000645506.1:c.2371G>A | ENSP00000495455.1:p.Ala791Thr | |
| ENST00000646415.1:c.2371G>A | ENSP00000495543.1:p.Ala791Thr | |
| ENST00000233146.6:c.2371G>A | ENSP00000233146.2:p.Ala791Thr | |
| ENST00000406134.5:c.2371G>A | ENSP00000384199.1:p.Ala791Thr | |
| ENST00000543555.5:c.2173G>A | ENSP00000442697.1:p.Ala725Thr | |
| ENST00000610696.4:c.*767G>A | ENSP00000483159.1:n.*767G>A | |
| ENST00000613514.4:c.*911G>A | ENSP00000484137.1:n.*911G>A | |
| ENST00000617333.3:c.*1137G>A | ENSP00000482468.1:n.*1137G>A | |
| ENST00000617938.4:c.*1343G>A | ENSP00000481158.1:n.*1343G>A | |
| ENST00000621359.2:c.2370G>A | ENSP00000481416.1:p.Trp790Ter | |
| NM_000251.2:c.2371G>A , LRG_218t1:c.2371G>A | NP_000242.1:p.Ala791Thr | |
| NM_001258281.1:c.2173G>A | NP_001245210.1:p.Ala725Thr | |
| XM_005264332.2:c.2371G>A | XP_005264389.2:p.Ala791Thr | |
| XM_011532867.1:c.2371G>A | XP_011531169.1:p.Ala791Thr | |
| XR_939685.1:n.2443G>A | ||
| XM_005264332.4:c.2371G>A | XP_005264389.2:p.Ala791Thr | |
| XM_011532867.2:c.2371G>A | XP_011531169.1:p.Ala791Thr | |
| XR_001738747.2:n.2433G>A | ||
| XR_939685.2:n.2433G>A | ||
| NM_000251.3:c.2371G>A MANE Select | NP_000242.1:p.Ala791Thr |