Linked Data
dbSNP Id:
rs3136797
ExAC:
8:42226805 C / G
gnomAD v2:
8-42226805-C-G
gnomAD v3:
8-42369287-C-G
gnomAD v4:
8-42369287-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42369287C>G , CM000670.2:g.42369287C>G | GRCh38 |
| NC_000008.10:g.42226805C>G , CM000670.1:g.42226805C>G | GRCh37 |
| NC_000008.9:g.42345962C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265421.9:c.725C>G MANE Select | ENSP00000265421.4:p.Pro242Arg | |
| ENST00000265421.8:c.725C>G | ENSP00000265421.4:p.Pro242Arg | |
| ENST00000517393.1:c.156-2276C>G | ||
| ENST00000518579.5:c.298C>G | ||
| ENST00000518925.5:c.830C>G | ENSP00000430784.1:p.Pro277Arg | |
| ENST00000519771.5:c.*529C>G | ENSP00000427799.1:n.*529C>G | |
| ENST00000521290.5:c.429C>G | ||
| ENST00000521492.1:c.-119C>G | ENSP00000430831.1:n.-119C>G | |
| ENST00000522610.5:c.*250C>G | ENSP00000429436.1:n.*250C>G | |
| ENST00000524208.5:c.465C>G | ENSP00000428578.1:n.465C>G | |
| NM_002690.2:c.725C>G | NP_002681.1:p.Pro242Arg | |
| XM_005273535.2:c.830C>G | XP_005273592.1:p.Pro277Arg | |
| XM_005273536.2:c.743C>G | XP_005273593.1:p.Pro248Arg | |
| XM_005273537.2:c.638C>G | XP_005273594.1:p.Pro213Arg | |
| XM_005273538.2:c.383C>G | XP_005273595.1:p.Pro128Arg | |
| XM_005273539.2:c.263C>G | XP_005273596.1:p.Pro88Arg | |
| XM_005273540.3:c.263C>G | XP_005273597.1:p.Pro88Arg | |
| XM_006716353.2:c.263C>G | XP_006716416.1:p.Pro88Arg | |
| XM_005273535.4:c.830C>G | XP_005273592.1:p.Pro277Arg | |
| XM_005273536.4:c.743C>G | XP_005273593.1:p.Pro248Arg | |
| XM_005273537.4:c.638C>G | XP_005273594.1:p.Pro213Arg | |
| XM_005273540.4:c.263C>G | XP_005273597.1:p.Pro88Arg | |
| XM_017013583.1:c.383C>G | XP_016869072.1:p.Pro128Arg | |
| XM_017013584.1:c.263C>G | XP_016869073.1:p.Pro88Arg | |
| XR_001745544.2:n.966C>G | ||
| NM_002690.3:c.725C>G MANE Select | NP_002681.1:p.Pro242Arg |