Linked Data
ClinVar Variation Id:
2989046
ClinVar RCV Id:
RCV003849197
dbSNP Id:
rs765518132
ExAC:
16:67976747 T / C
gnomAD v2:
16-67976747-T-C
gnomAD v4:
16-67942844-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942844T>C , CM000678.2:g.67942844T>C | GRCh38 |
| NC_000016.9:g.67976747T>C , CM000678.1:g.67976747T>C | GRCh37 |
| NC_000016.8:g.66534248T>C | NCBI36 |
| NG_009778.1:g.6269A>G | |
| NG_033098.1:g.30851A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.427+17A>G MANE Select | ENSP00000264005.5:n.427+17A>G | |
| ENST00000264005.9:c.427+17A>G | ENSP00000264005.5:n.427+17A>G | |
| ENST00000570369.5:c.155+17A>G | ||
| ENST00000570980.1:c.211+17A>G | ENSP00000464651.1:n.211+17A>G | |
| ENST00000573538.5:c.70+17A>G | ENSP00000463220.1:n.70+17A>G | |
| ENST00000573846.1:n.41+17A>G | ||
| ENST00000575277.1:n.205+17A>G | ||
| ENST00000575467.5:c.*122+17A>G | ENSP00000460653.1:n.*122+17A>G | |
| NM_000229.1:c.427+17A>G | NP_000220.1:n.427+17A>G | |
| NM_000229.2:c.427+17A>G MANE Select | NP_000220.1:n.427+17A>G |