Linked Data
ClinVar Variation Id:
522836
ClinVar RCV Id:
RCV000626008
dbSNP Id:
rs369808296
ExAC:
16:4873850 G / A
gnomAD v2:
16-4873850-G-A
gnomAD v3:
16-4823849-G-A
gnomAD v4:
16-4823849-G-A
MyVariant Identifiers:
chr16:g.4873850G>A (hg19)
chr16:g.4873850_4873862delinsACGGCCATCGGTC (hg19)
chr16:g.4823849G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4823849G>A , CM000678.2:g.4823849G>A | GRCh38 |
| NC_000016.9:g.4873850G>A , CM000678.1:g.4873850G>A | GRCh37 |
| NC_000016.8:g.4813851G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321919.14:c.596C>T MANE Select | ENSP00000322716.6:p.Ala199Val | |
| ENST00000321919.13:c.596C>T | ENSP00000322716.6:p.Ala199Val | |
| ENST00000436648.9:c.353C>T | ENSP00000390276.4:p.Ala118Val | |
| ENST00000586901.1:n.522C>T | ||
| ENST00000587297.1:c.302C>T | ENSP00000467541.1:p.Ala101Val | |
| ENST00000588297.5:c.353C>T | ENSP00000467751.1:p.Ala118Val | |
| ENST00000588732.5:c.*636C>T | ENSP00000466127.1:n.*636C>T | |
| ENST00000589389.5:c.558C>T | ||
| ENST00000591451.5:c.596C>T | ENSP00000468328.1:p.Ala199Val | |
| NM_001308096.1:c.596C>T | NP_001295025.1:p.Ala199Val | |
| NM_032569.3:c.596C>T | NP_115958.2:p.Ala199Val | |
| XM_005255638.3:c.596C>T | XP_005255695.3:p.Ala199Val | |
| XM_005255639.3:c.419C>T | XP_005255696.2:p.Ala140Val | |
| XM_005255640.3:c.419C>T | XP_005255697.3:p.Ala140Val | |
| XM_011522716.1:c.581C>T | XP_011521018.1:p.Ala194Val | |
| XM_011522717.1:c.389C>T | XP_011521019.1:p.Ala130Val | |
| XM_011522718.1:c.596C>T | XP_011521020.1:p.Ala199Val | |
| XR_243321.3:n.613C>T | ||
| XR_932954.1:n.818C>T | ||
| NM_001324096.1:c.419C>T | NP_001311025.1:p.Ala140Val | |
| NM_001324097.1:c.419C>T | NP_001311026.1:p.Ala140Val | |
| NM_001324098.1:c.662C>T | NP_001311027.1:p.Ala221Val | |
| NR_136695.1:n.918C>T | ||
| NR_136696.1:n.719C>T | ||
| NR_136697.1:n.719C>T | ||
| NR_136698.1:n.719C>T | ||
| NR_136699.1:n.719C>T | ||
| NR_136700.1:n.719C>T | ||
| XM_005255639.5:c.503C>T | XP_005255696.3:p.Ala168Val | |
| XM_011522716.3:c.581C>T | XP_011521018.1:p.Ala194Val | |
| XM_011522717.2:c.389C>T | XP_011521019.1:p.Ala130Val | |
| XM_017023786.2:c.746C>T | XP_016879275.2:p.Ala249Val | |
| XM_017023787.2:c.746C>T | XP_016879276.2:p.Ala249Val | |
| XM_017023788.2:c.389C>T | XP_016879277.1:p.Ala130Val | |
| XM_017023789.2:c.389C>T | XP_016879278.1:p.Ala130Val | |
| XR_001752008.2:n.1363C>T | ||
| XR_001752009.2:n.1363C>T | ||
| XR_001752010.2:n.1363C>T | ||
| XR_002957846.1:n.1363C>T | ||
| NM_032569.4:c.596C>T MANE Select | NP_115958.2:p.Ala199Val | |
| NM_001324096.2:c.353C>T | NP_001311025.2:p.Ala118Val | |
| NM_001324097.2:c.353C>T | NP_001311026.2:p.Ala118Val | |
| NM_001324098.2:c.596C>T | NP_001311027.2:p.Ala199Val | |
| NR_136695.2:n.818C>T | ||
| NM_001308096.2:c.596C>T | NP_001295025.1:p.Ala199Val | |
| NR_136696.2:n.619C>T | ||
| NR_136697.2:n.619C>T | ||
| NR_136698.2:n.619C>T | ||
| NR_136699.2:n.619C>T | ||
| NR_136700.2:n.619C>T |