Linked Data
ClinVar Variation Id:
2438877
ClinVar RCV Id:
RCV003141212
dbSNP Id:
rs1775771728
gnomAD v4:
6-142405740-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.142405740C>G , CM000668.2:g.142405740C>G | GRCh38 |
| NC_000006.11:g.142726877C>G , CM000668.1:g.142726877C>G | GRCh37 |
| NC_000006.10:g.142768570C>G | NCBI36 |
| NG_011839.1:g.108822C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296932.13:c.2096C>G | ENSP00000296932.8:p.Pro699Arg | |
| ENST00000367609.8:c.2180C>G MANE Select | ENSP00000356581.3:p.Pro727Arg | |
| ENST00000230173.10:c.2180C>G | ENSP00000230173.6:p.Pro727Arg | |
| ENST00000296932.12:c.2096C>G | ENSP00000296932.8:p.Pro699Arg | |
| ENST00000367608.6:c.2096C>G | ENSP00000356580.2:p.Pro699Arg | |
| ENST00000367609.7:c.2180C>G | ENSP00000356581.3:p.Pro727Arg | |
| ENST00000538281.1:n.432C>G | ||
| ENST00000540208.1:c.353C>G | ||
| NM_001032394.2:c.2096C>G | NP_001027566.1:p.Pro699Arg | |
| NM_001032395.2:c.2096C>G | NP_001027567.1:p.Pro699Arg | |
| NM_020455.5:c.2180C>G | NP_065188.4:p.Pro727Arg | |
| NM_198569.2:c.2180C>G | NP_940971.1:p.Pro727Arg | |
| XM_005267061.2:c.2183C>G | XP_005267118.1:p.Pro728Arg | |
| XM_006715516.2:c.2183C>G | XP_006715579.1:p.Pro728Arg | |
| XM_006715517.2:c.2177C>G | XP_006715580.1:p.Pro726Arg | |
| XM_006715518.2:c.2099C>G | XP_006715581.1:p.Pro700Arg | |
| XM_011535964.1:c.2180C>G | XP_011534266.1:p.Pro727Arg | |
| XM_005267061.3:c.2183C>G | XP_005267118.1:p.Pro728Arg | |
| XM_017011085.1:c.2183C>G | XP_016866574.1:p.Pro728Arg | |
| NM_198569.3:c.2180C>G MANE Select | NP_940971.2:p.Pro727Arg | |
| NM_001032394.3:c.2096C>G | NP_001027566.2:p.Pro699Arg | |
| NM_001032395.3:c.2096C>G | NP_001027567.2:p.Pro699Arg | |
| NM_020455.6:c.2180C>G | NP_065188.5:p.Pro727Arg |