Linked Data
ClinVar Variation Id:
2545991
ClinVar RCV Id:
RCV004321022
dbSNP Id:
rs765542991
ExAC:
1:17674527 C / G
gnomAD v2:
1-17674527-C-G
gnomAD v4:
1-17348032-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17348032C>G , CM000663.2:g.17348032C>G | GRCh38 |
| NC_000001.10:g.17674527C>G , CM000663.1:g.17674527C>G | GRCh37 |
| NC_000001.9:g.17547114C>G | NCBI36 |
| NG_023261.2:g.44843C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.1139C>G MANE Select | ENSP00000364597.4:p.Pro380Arg | |
| ENST00000468945.1:n.198C>G | ||
| ENST00000487048.5:n.106C>G | ||
| NM_012387.2:c.1139C>G | NP_036519.2:p.Pro380Arg | |
| XM_011541150.1:c.953C>G | XP_011539452.1:p.Pro318Arg | |
| XM_011541151.1:c.1139C>G | XP_011539453.1:p.Pro380Arg | |
| XM_011541152.1:c.602C>G | XP_011539454.1:p.Pro201Arg | |
| XM_011541153.1:c.1139C>G | XP_011539455.1:p.Pro380Arg | |
| XM_011541154.1:c.1139C>G | XP_011539456.1:p.Pro380Arg | |
| XM_011541155.1:c.1139C>G | XP_011539457.1:p.Pro380Arg | |
| XM_011541156.1:c.1139C>G | XP_011539458.1:p.Pro380Arg | |
| XM_011541157.1:c.248C>G | XP_011539459.1:p.Pro83Arg | |
| XM_011541154.2:c.1139C>G | XP_011539456.1:p.Pro380Arg | |
| NM_012387.3:c.1139C>G MANE Select | NP_036519.2:p.Pro380Arg |