Linked Data
ClinVar Variation Id:
2118927
ClinVar RCV Id:
RCV003054401
dbSNP Id:
rs778407563
gnomAD v2:
16-75579342-G-C
gnomAD v4:
16-75545444-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75545444G>C , CM000678.2:g.75545444G>C | GRCh38 |
| NC_000016.9:g.75579342G>C , CM000678.1:g.75579342G>C | GRCh37 |
| NC_000016.8:g.74136843G>C | NCBI36 |
| NG_033109.1:g.15843C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*292C>G | ENSP00000510128.1:n.*292C>G | |
| ENST00000686547.1:c.*451C>G | ENSP00000508790.1:n.*451C>G | |
| ENST00000686680.1:c.175C>G | ENSP00000508892.1:p.Pro59Ala | |
| ENST00000688195.1:c.118C>G | ENSP00000510115.1:p.Pro40Ala | |
| ENST00000688270.1:c.490C>G | ENSP00000509823.1:p.Pro164Ala | |
| ENST00000688618.1:c.*292C>G | ENSP00000509271.1:n.*292C>G | |
| ENST00000689040.1:c.*292C>G | ENSP00000508573.1:n.*292C>G | |
| ENST00000692097.1:c.*241C>G | ENSP00000509668.1:n.*241C>G | |
| ENST00000692689.1:c.142C>G | ENSP00000509732.1:p.Pro48Ala | |
| ENST00000693457.1:c.*292C>G | ENSP00000508414.1:n.*292C>G | |
| ENST00000693682.1:c.490C>G | ENSP00000508670.1:p.Pro164Ala | |
| ENST00000258173.11:c.490C>G MANE Select | ENSP00000258173.5:p.Pro164Ala | |
| ENST00000258173.10:c.490C>G | ENSP00000258173.5:p.Pro164Ala | |
| ENST00000562410.5:c.*292C>G | ENSP00000454582.1:n.*292C>G | |
| ENST00000564576.1:n.346-2761C>G | ||
| ENST00000565067.5:c.438+382C>G | ENSP00000457254.1:n.438+382C>G | |
| ENST00000568377.5:c.577C>G | ENSP00000476267.1:p.Pro193Ala | |
| ENST00000569294.1:n.234C>G | ||
| ENST00000570006.5:c.452C>G | ENSP00000455520.1:p.Ser151Cys | |
| NM_001077416.2:c.649C>G | NP_001070884.2:p.Pro217Ala | |
| NM_001077418.2:c.490C>G | NP_001070886.1:p.Pro164Ala | |
| NR_074083.1:n.690C>G | ||
| NM_001077418.3:c.490C>G MANE Select | NP_001070886.1:p.Pro164Ala | |
| NR_074083.2:n.656C>G |