Linked Data
ClinVar Variation Id:
2067472
ClinVar RCV Id:
RCV002966468
dbSNP Id:
rs780494581
ExAC:
16:75573904 C / T
gnomAD v2:
16-75573904-C-T
gnomAD v3:
16-75540006-C-T
gnomAD v4:
16-75540006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540006C>T , CM000678.2:g.75540006C>T | GRCh38 |
| NC_000016.9:g.75573904C>T , CM000678.1:g.75573904C>T | GRCh37 |
| NC_000016.8:g.74131405C>T | NCBI36 |
| NG_029853.1:g.165G>A | |
| NG_033109.1:g.21281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*573G>A | ENSP00000510128.1:n.*573G>A | |
| ENST00000686680.1:c.624G>A | ENSP00000508892.1:p.Glu208= | |
| ENST00000688195.1:c.567G>A | ENSP00000510115.1:p.Glu189= | |
| ENST00000688270.1:c.*260G>A | ENSP00000509823.1:n.*260G>A | |
| ENST00000688618.1:c.*766G>A | ENSP00000509271.1:n.*766G>A | |
| ENST00000689040.1:c.*1046G>A | ENSP00000508573.1:n.*1046G>A | |
| ENST00000692097.1:c.*690G>A | ENSP00000509668.1:n.*690G>A | |
| ENST00000692689.1:c.591G>A | ENSP00000509732.1:p.Glu197= | |
| ENST00000693457.1:c.*1164G>A | ENSP00000508414.1:n.*1164G>A | |
| ENST00000693682.1:c.*583G>A | ENSP00000508670.1:n.*583G>A | |
| ENST00000258173.11:c.939G>A MANE Select | ENSP00000258173.5:p.Glu313= | |
| ENST00000258173.10:c.939G>A | ENSP00000258173.5:p.Glu313= | |
| ENST00000460606.1:c.159+2596G>A | ||
| ENST00000562410.5:c.*741G>A | ENSP00000454582.1:n.*741G>A | |
| ENST00000564318.1:n.864G>A | ||
| ENST00000565067.5:c.795G>A | ENSP00000457254.1:p.Glu265= | |
| ENST00000568377.5:c.1026G>A | ENSP00000476267.1:p.Glu342= | |
| NM_001077416.2:c.1098G>A | NP_001070884.2:p.Glu366= | |
| NM_001077418.2:c.939G>A | NP_001070886.1:p.Glu313= | |
| NR_074083.1:n.1139G>A | ||
| NM_001077418.3:c.939G>A MANE Select | NP_001070886.1:p.Glu313= | |
| NR_074083.2:n.1105G>A |