Linked Data
dbSNP Id:
rs765692164
ExAC:
15:22969332 C / G
gnomAD v2:
15-22969332-C-G
gnomAD v4:
15-22903736-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903736G>C , CM000677.2:g.22903736G>C | GRCh38 |
| NC_000015.9:g.22969332C>G , CM000677.1:g.22969332C>G | GRCh37 |
| NC_000015.8:g.20520773C>G | NCBI36 |
| NG_054889.1:g.82171C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2552C>G | ENSP00000479802.2:p.Pro851Arg | |
| ENST00000617928.5:c.2558C>G MANE Select | ENSP00000481038.1:p.Pro853Arg | |
| ENST00000610365.4:c.2558C>G | ENSP00000478779.1:p.Pro853Arg | |
| ENST00000617556.4:c.1265C>G | ENSP00000480525.1:p.Pro422Arg | |
| ENST00000617928.4:c.2558C>G | ENSP00000481038.1:p.Pro853Arg | |
| ENST00000619348.4:n.1705C>G | ||
| NM_001033028.1:c.1265C>G | NP_001028200.1:p.Pro422Arg | |
| NM_001287810.1:c.2558C>G | NP_001274739.1:p.Pro853Arg | |
| NM_014608.3:c.2558C>G | NP_055423.1:p.Pro853Arg | |
| XM_011543873.1:c.2957C>G | XP_011542175.1:p.Pro986Arg | |
| XM_011543874.1:c.2957C>G | XP_011542176.1:p.Pro986Arg | |
| XM_011543875.1:c.2957C>G | XP_011542177.1:p.Pro986Arg | |
| XM_011543876.1:c.2552C>G | XP_011542178.1:p.Pro851Arg | |
| NM_001033028.2:c.1265C>G | NP_001028200.1:p.Pro422Arg | |
| NM_001287810.3:c.2558C>G | NP_001274739.1:p.Pro853Arg | |
| NM_001324119.2:c.2660C>G | NP_001311048.1:p.Pro887Arg | |
| NM_001324120.2:c.2558C>G | NP_001311049.1:p.Pro853Arg | |
| NM_001324122.2:c.878C>G | NP_001311051.1:p.Pro293Arg | |
| NM_001324123.2:c.2558C>G | NP_001311052.1:p.Pro853Arg | |
| NM_001324124.2:c.2468C>G | NP_001311053.1:p.Pro823Arg | |
| NM_001324125.2:c.2192C>G | NP_001311054.1:p.Pro731Arg | |
| NM_001324126.2:c.2456C>G | NP_001311055.1:p.Pro819Arg | |
| NM_014608.5:c.2558C>G | NP_055423.1:p.Pro853Arg | |
| XM_011543873.3:c.2957C>G | XP_011542175.1:p.Pro986Arg | |
| XM_011543874.2:c.2957C>G | XP_011542176.1:p.Pro986Arg | |
| XM_011543876.3:c.2654C>G | XP_011542178.2:p.Pro885Arg | |
| XM_017022023.2:c.3059C>G | XP_016877512.1:p.Pro1020Arg | |
| XM_017022024.2:c.2957C>G | XP_016877513.1:p.Pro986Arg | |
| XM_024449876.1:c.2957C>G | XP_024305644.1:p.Pro986Arg | |
| XM_024449877.1:c.2558C>G | XP_024305645.1:p.Pro853Arg | |
| NM_014608.6:c.2558C>G MANE Select | NP_055423.1:p.Pro853Arg | |
| NM_001287810.4:c.2558C>G | NP_001274739.1:p.Pro853Arg | |
| NM_001324122.3:c.878C>G | NP_001311051.1:p.Pro293Arg | |
| NM_001324123.3:c.2558C>G | NP_001311052.1:p.Pro853Arg | |
| NM_001324124.3:c.2468C>G | NP_001311053.1:p.Pro823Arg | |
| NM_001324125.3:c.2192C>G | NP_001311054.1:p.Pro731Arg | |
| NM_001324126.3:c.2456C>G | NP_001311055.1:p.Pro819Arg | |
| NM_001033028.3:c.1265C>G | NP_001028200.1:p.Pro422Arg |