Linked Data
dbSNP Id:
rs766101164
ExAC:
6:31937676 G / C
gnomAD v2:
6-31937676-G-C
gnomAD v3:
6-31969899-G-C
gnomAD v4:
6-31969899-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969899G>C , CM000668.2:g.31969899G>C | GRCh38 |
| NC_000006.11:g.31937676G>C , CM000668.1:g.31937676G>C | GRCh37 |
| NC_000006.10:g.32045655G>C | NCBI36 |
| NG_032652.1:g.16096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337523.10:c.1169C>G MANE Select | ENSP00000337759.5:p.Pro390Arg | |
| ENST00000337523.9:c.1169C>G | ENSP00000337759.5:p.Pro390Arg | |
| ENST00000375349.7:c.1169C>G | ENSP00000364498.3:p.Pro390Arg | |
| ENST00000375356.7:c.1169C>G | ENSP00000364505.3:p.Pro390Arg | |
| ENST00000473976.1:n.1941C>G | ||
| ENST00000477826.5:n.2004C>G | ||
| ENST00000478221.5:n.1050C>G | ||
| ENST00000485557.5:n.1789C>G | ||
| ENST00000491327.5:n.1306C>G | ||
| ENST00000495340.5:c.502C>G | ||
| ENST00000498357.1:n.1613C>G | ||
| NM_005510.3:c.1169C>G | NP_005501.2:p.Pro390Arg | |
| XM_006715005.2:c.1169C>G | XP_006715068.1:p.Pro390Arg | |
| XM_006715007.2:c.617C>G | XP_006715070.1:p.Pro206Arg | |
| XR_926081.1:n.1642C>G | ||
| XR_926082.1:n.1669C>G | ||
| XM_006715005.3:c.1169C>G | XP_006715068.1:p.Pro390Arg | |
| XM_017010329.1:c.617C>G | XP_016865818.1:p.Pro206Arg | |
| XR_002956262.1:n.1401C>G | ||
| XR_002956263.1:n.1567C>G | ||
| XR_002956264.1:n.1467C>G | ||
| XR_926082.2:n.1409C>G | ||
| NM_005510.4:c.1169C>G MANE Select | NP_005501.2:p.Pro390Arg | |
| NM_001371205.1:c.617C>G | NP_001358134.1:p.Pro206Arg | |
| NM_001371206.1:c.617C>G | NP_001358135.1:p.Pro206Arg |