Linked Data
ClinVar Variation Id:
403743
dbSNP Id:
rs747886467
ExAC:
15:40491909 A / C
gnomAD v2:
15-40491909-A-C
gnomAD v3:
15-40199708-A-C
gnomAD v4:
15-40199708-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40199708A>C , CM000677.2:g.40199708A>C | GRCh38 |
| NC_000015.9:g.40491909A>C , CM000677.1:g.40491909A>C | GRCh37 |
| NC_000015.8:g.38279201A>C | NCBI36 |
| NG_016338.1:g.43700A>C , LRG_489:g.43700A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.1382A>C MANE Select | ENSP00000287598.7:p.Gln461Pro | |
| ENST00000287598.10:c.1382A>C | ENSP00000287598.6:p.Gln461Pro | |
| ENST00000412359.7:c.1424A>C | ENSP00000398470.3:p.Gln475Pro | |
| ENST00000559733.5:c.494A>C | ||
| ENST00000559772.1:n.495A>C | ||
| NM_001211.5:c.1382A>C , LRG_489t1:c.1382A>C | NP_001202.4:p.Gln461Pro | |
| XR_001751506.1:n.218-19507T>G | ||
| NM_001211.6:c.1382A>C MANE Select | NP_001202.5:p.Gln461Pro |