Linked Data
ClinVar Variation Id:
282694
ClinVar RCV Id:
RCV000391488
dbSNP Id:
rs886042458
gnomAD v4:
7-155803249-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155803249G>C , CM000669.2:g.155803249G>C | GRCh38 |
| NC_000007.13:g.155595943G>C , CM000669.1:g.155595943G>C | GRCh37 |
| NC_000007.12:g.155288704G>C | NCBI36 |
| NG_007504.2:g.14025C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.1040C>G MANE Select | ENSP00000297261.2:p.Pro347Arg | |
| ENST00000297261.6:c.1040C>G | ENSP00000297261.2:p.Pro347Arg | |
| ENST00000430104.5:c.302-3004C>G | ENSP00000396621.1:n.302-3004C>G | |
| ENST00000435425.1:c.302-2652C>G | ENSP00000413871.1:n.302-2652C>G | |
| ENST00000441114.5:c.302-2582C>G | ENSP00000410546.1:n.302-2582C>G | |
| NM_000193.2:c.1040C>G | NP_000184.1:p.Pro347Arg | |
| NM_000193.3:c.1040C>G | NP_000184.1:p.Pro347Arg | |
| NM_001310462.1:c.302-3004C>G | NP_001297391.1:n.302-3004C>G | |
| NR_132318.1:n.472-2582C>G | ||
| NR_132319.1:n.472-2652C>G | ||
| XM_011516479.1:c.779C>G | XP_011514781.1:p.Pro260Arg | |
| XM_011516480.1:c.779C>G | XP_011514782.1:p.Pro260Arg | |
| XM_011516481.1:c.779C>G | XP_011514783.1:p.Pro260Arg | |
| XM_011516482.1:c.701C>G | XP_011514784.1:p.Pro234Arg | |
| XM_011516479.2:c.779C>G | XP_011514781.1:p.Pro260Arg | |
| XM_011516480.2:c.779C>G | XP_011514782.1:p.Pro260Arg | |
| NM_000193.4:c.1040C>G MANE Select | NP_000184.1:p.Pro347Arg | |
| NM_001310462.2:c.302-3004C>G | NP_001297391.1:n.302-3004C>G | |
| NR_132318.2:n.563-2582C>G | ||
| NR_132319.2:n.563-2652C>G |