Linked Data
dbSNP Id:
rs756617782
ExAC:
6:35423907 C / G
gnomAD v2:
6-35423907-C-G
gnomAD v4:
6-35456130-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35456130C>G , CM000668.2:g.35456130C>G | GRCh38 |
| NC_000006.11:g.35423907C>G , CM000668.1:g.35423907C>G | GRCh37 |
| NC_000006.10:g.35531885C>G | NCBI36 |
| NG_011708.1:g.8770C>G , LRG_498:g.8770C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.632C>G | ENSP00000512511.1:p.Pro211Arg | |
| ENST00000696265.1:c.632C>G | ENSP00000512512.1:p.Pro211Arg | |
| ENST00000696266.1:c.350C>G | ENSP00000512513.1:p.Pro117Arg | |
| ENST00000696267.1:n.272C>G | ||
| ENST00000229769.3:c.632C>G MANE Select | ENSP00000229769.2:p.Pro211Arg | |
| ENST00000648059.1:c.632C>G | ENSP00000497902.1:p.Pro211Arg | |
| ENST00000229769.2:c.632C>G | ENSP00000229769.2:p.Pro211Arg | |
| NM_021922.2:c.632C>G , LRG_498t1:c.632C>G | NP_068741.1:p.Pro211Arg | |
| XM_005248885.2:c.632C>G | XP_005248942.1:p.Pro211Arg | |
| XM_005248886.2:c.632C>G | XP_005248943.1:p.Pro211Arg | |
| XM_005248887.2:c.632C>G | XP_005248944.1:p.Pro211Arg | |
| XM_005248888.2:c.632C>G | XP_005248945.1:p.Pro211Arg | |
| XM_011514343.1:c.338C>G | XP_011512645.1:p.Pro113Arg | |
| XM_011514344.1:c.338C>G | XP_011512646.1:p.Pro113Arg | |
| XM_005248888.3:c.632C>G | XP_005248945.1:p.Pro211Arg | |
| XM_011514343.2:c.338C>G | XP_011512645.1:p.Pro113Arg | |
| XR_001743226.1:n.839C>G | ||
| XR_002956267.1:n.839C>G | ||
| NM_021922.3:c.632C>G MANE Select | NP_068741.1:p.Pro211Arg |