Linked Data
ClinVar Variation Id:
944703
ClinVar RCV Id:
RCV002241117
dbSNP Id:
rs1234927321
gnomAD v3:
10-93793227-A-G
gnomAD v4:
10-93793227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793227A>G , CM000672.2:g.93793227A>G | GRCh38 |
| NC_000010.10:g.95552984A>G , CM000672.1:g.95552984A>G | GRCh37 |
| NC_000010.9:g.95542974A>G | NCBI36 |
| NG_011832.1:g.40419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.715A>G MANE Select | ENSP00000360472.4:p.Ile239Val | |
| ENST00000485458.3:n.4691A>G | ||
| ENST00000635953.1:c.715A>G | ENSP00000490058.1:p.Ile239Val | |
| ENST00000636155.1:c.715A>G | ENSP00000490355.1:p.Ile239Val | |
| ENST00000636232.1:c.*501A>G | ENSP00000490325.1:n.*501A>G | |
| ENST00000636754.1:c.*557A>G | ENSP00000489781.1:n.*557A>G | |
| ENST00000636946.1:c.*884A>G | ENSP00000490654.1:n.*884A>G | |
| ENST00000637037.1:c.*305A>G | ENSP00000490860.1:n.*305A>G | |
| ENST00000637347.1:n.576A>G | ||
| ENST00000637611.1:c.*271A>G | ENSP00000489682.1:n.*271A>G | |
| ENST00000637689.1:c.-657A>G | ENSP00000490496.1:n.-657A>G | |
| ENST00000637925.1:c.*310A>G | ENSP00000489763.1:n.*310A>G | |
| ENST00000638049.1:c.*473A>G | ENSP00000490597.1:n.*473A>G | |
| ENST00000676175.1:n.2454A>G | ||
| ENST00000371413.4:c.715A>G | ENSP00000360467.3:p.Ile239Val | |
| ENST00000371418.8:c.715A>G | ENSP00000360472.4:p.Ile239Val | |
| ENST00000626307.1:n.4630A>G | ||
| ENST00000626946.1:n.385A>G | ||
| ENST00000627420.2:c.*424A>G | ENSP00000487116.1:n.*424A>G | |
| ENST00000629035.2:c.643A>G | ENSP00000486908.1:p.Ile215Val | |
| ENST00000630047.2:c.571A>G | ENSP00000485917.1:p.Ile191Val | |
| ENST00000630412.1:n.503A>G | ||
| ENST00000630487.2:c.*505A>G | ENSP00000486859.1:n.*505A>G | |
| NM_001308275.1:c.715A>G | NP_001295204.1:p.Ile239Val | |
| NM_001308276.1:c.571A>G | NP_001295205.1:p.Ile191Val | |
| NM_005097.2:c.715A>G | NP_005088.1:p.Ile239Val | |
| NM_005097.3:c.715A>G | NP_005088.1:p.Ile239Val | |
| NR_131777.1:n.979A>G | ||
| XM_017016911.2:c.715A>G | XP_016872400.1:p.Ile239Val | |
| XM_017016912.2:c.571A>G | XP_016872401.1:p.Ile191Val | |
| NM_005097.4:c.715A>G MANE Select | NP_005088.1:p.Ile239Val | |
| NM_001308275.2:c.715A>G | NP_001295204.1:p.Ile239Val | |
| NM_001308276.2:c.571A>G | NP_001295205.1:p.Ile191Val | |
| NR_131777.2:n.852A>G |