Linked Data
ClinVar Variation Id:
3035882
ClinVar RCV Id:
RCV003912291
dbSNP Id:
rs773087443
ExAC:
16:88786114 C / T
gnomAD v2:
16-88786114-C-T
gnomAD v3:
16-88719706-C-T
gnomAD v4:
16-88719706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719706C>T , CM000678.2:g.88719706C>T | GRCh38 |
| NC_000016.9:g.88786114C>T , CM000678.1:g.88786114C>T | GRCh37 |
| NC_000016.8:g.87313615C>T | NCBI36 |
| NG_042229.1:g.70515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6339G>A MANE Select | ENSP00000301015.9:p.Pro2113= | |
| ENST00000466823.3:c.365G>A | ||
| ENST00000301015.13:c.6339G>A | ENSP00000301015.9:p.Pro2113= | |
| ENST00000419505.5:c.105G>A | ENSP00000406358.1:p.Pro35= | |
| ENST00000466823.2:c.365G>A | ||
| ENST00000495568.7:n.580G>A | ||
| ENST00000497793.2:n.494G>A | ||
| NM_001142864.2:c.6339G>A | NP_001136336.2:p.Pro2113= | |
| NM_001142864.3:c.6339G>A | NP_001136336.2:p.Pro2113= | |
| NM_001142864.4:c.6339G>A MANE Select | NP_001136336.2:p.Pro2113= |