Linked Data
ClinVar Variation Id:
780016
ClinVar RCV Id:
RCV000961023
dbSNP Id:
rs61735554
ExAC:
16:3142669 C / T
gnomAD v2:
16-3142669-C-T
gnomAD v3:
16-3092668-C-T
gnomAD v4:
16-3092668-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3092668C>T , CM000678.2:g.3092668C>T | GRCh38 |
| NC_000016.9:g.3142669C>T , CM000678.1:g.3142669C>T | GRCh37 |
| NC_000016.8:g.3082670C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576985.6:c.270G>A MANE Select | ENSP00000458879.2:p.Glu90= | |
| ENST00000252463.6:c.105G>A | ENSP00000252463.2:p.Glu35= | |
| ENST00000538082.5:c.127G>A | ENSP00000440047.2:p.Ala43Thr | |
| ENST00000571903.5:n.569G>A | ||
| ENST00000572431.1:c.-518-840G>A | ENSP00000460473.1:n.-518-840G>A | |
| ENST00000572548.1:c.261+9G>A | ENSP00000461871.2:n.261+9G>A | |
| ENST00000575108.5:c.-786-352G>A | ENSP00000459520.1:n.-786-352G>A | |
| ENST00000576483.1:c.270G>A | ENSP00000458260.2:p.Glu90= | |
| ENST00000576985.5:c.270G>A | ENSP00000458879.2:p.Glu90= | |
| ENST00000577059.1:n.418G>A | ||
| NM_001282415.1:c.-786-352G>A | NP_001269344.1:n.-786-352G>A | |
| NM_001282416.1:c.127G>A | NP_001269345.1:p.Ala43Thr | |
| NM_032805.2:c.270G>A | NP_116194.2:p.Glu90= | |
| NM_001365272.1:c.118+9G>A | NP_001352201.1:n.118+9G>A | |
| NM_001365273.1:c.-518-840G>A | NP_001352202.1:n.-518-840G>A | |
| XM_017023791.1:c.270G>A | XP_016879280.1:p.Glu90= | |
| XM_017023792.1:c.270G>A | XP_016879281.1:p.Glu90= | |
| NM_032805.3:c.270G>A MANE Select | NP_116194.2:p.Glu90= | |
| NM_001282415.2:c.-786-352G>A | NP_001269344.1:n.-786-352G>A | |
| NM_001282416.2:c.127G>A | NP_001269345.1:p.Ala43Thr |