Linked Data
ClinVar Variation Id:
2465492
ClinVar RCV Id:
RCV003185625
dbSNP Id:
rs369109806
ExAC:
16:71783883 G / C
gnomAD v2:
16-71783883-G-C
gnomAD v4:
16-71749980-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71749980G>C , CM000678.2:g.71749980G>C | GRCh38 |
| NC_000016.9:g.71783883G>C , CM000678.1:g.71783883G>C | GRCh37 |
| NC_000016.8:g.70341384G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299980.9:c.1411C>G MANE Select | ENSP00000299980.4:p.Pro471Ala | |
| ENST00000299980.8:c.1411C>G | ENSP00000299980.4:p.Pro471Ala | |
| ENST00000393512.7:c.1420C>G | ENSP00000377148.3:p.Pro474Ala | |
| ENST00000562934.1:n.350C>G | ||
| ENST00000565009.5:c.*787C>G | ENSP00000457726.1:n.*787C>G | |
| ENST00000565642.5:n.894C>G | ||
| ENST00000568327.5:c.*704C>G | ENSP00000454970.1:n.*704C>G | |
| ENST00000569748.5:c.1411C>G | ENSP00000454523.1:p.Pro471Ala | |
| NM_001030007.1:c.1420C>G | NP_001025178.1:p.Pro474Ala | |
| NM_001128.5:c.1411C>G | NP_001119.3:p.Pro471Ala | |
| NM_001030007.2:c.1420C>G | NP_001025178.1:p.Pro474Ala | |
| NM_001128.6:c.1411C>G MANE Select | NP_001119.3:p.Pro471Ala |