Linked Data
ClinVar Variation Id:
1099980
ClinVar RCV Id:
RCV001422434
dbSNP Id:
rs201533331
ExAC:
1:100342116 A / C
gnomAD v2:
1-100342116-A-C
gnomAD v3:
1-99876560-A-C
gnomAD v4:
1-99876560-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99876560A>C , CM000663.2:g.99876560A>C | GRCh38 |
| NC_000001.10:g.100342116A>C , CM000663.1:g.100342116A>C | GRCh37 |
| NC_000001.9:g.100114704A>C | NCBI36 |
| NG_012865.1:g.31477A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.1386A>C MANE Select | ENSP00000355106.3:p.Val462= | |
| ENST00000637337.1:n.1597A>C | ||
| ENST00000294724.8:c.1386A>C | ENSP00000294724.4:p.Val462= | |
| ENST00000361302.7:c.1338A>C | ENSP00000354971.3:p.Val446= | |
| ENST00000361522.4:c.1335A>C | ENSP00000354635.4:p.Val445= | |
| ENST00000361915.7:c.1386A>C | ENSP00000355106.3:p.Val462= | |
| ENST00000370161.6:c.1338A>C | ENSP00000359180.2:p.Val446= | |
| ENST00000370163.7:c.1386A>C | ENSP00000359182.3:p.Val462= | |
| ENST00000370165.7:c.1386A>C | ENSP00000359184.3:p.Val462= | |
| ENST00000477753.1:n.645A>C | ||
| NM_000028.2:c.1386A>C | NP_000019.2:p.Val462= | |
| NM_000642.2:c.1386A>C | NP_000633.2:p.Val462= | |
| NM_000643.2:c.1386A>C | NP_000634.2:p.Val462= | |
| NM_000644.2:c.1386A>C | NP_000635.2:p.Val462= | |
| NM_000645.2:c.1335A>C | NP_000636.2:p.Val445= | |
| NM_000646.2:c.1338A>C | NP_000637.2:p.Val446= | |
| XM_005270557.1:c.1386A>C | XP_005270614.1:p.Val462= | |
| XM_005270557.2:c.1386A>C | XP_005270614.1:p.Val462= | |
| NM_000642.3:c.1386A>C MANE Select | NP_000633.2:p.Val462= |