Linked Data
ClinVar Variation Id:
288517
dbSNP Id:
rs541372136
ExAC:
11:22272304 C / G
gnomAD v2:
11-22272304-C-G
gnomAD v3:
11-22250758-C-G
gnomAD v4:
11-22250758-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22250758C>G , CM000673.2:g.22250758C>G | GRCh38 |
| NC_000011.9:g.22272304C>G , CM000673.1:g.22272304C>G | GRCh37 |
| NC_000011.8:g.22228880C>G | NCBI36 |
| NG_015844.1:g.62583C>G , LRG_868:g.62583C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.351C>G | ||
| ENST00000682266.1:c.581C>G | ENSP00000507766.1:p.Pro194Arg | |
| ENST00000682341.1:c.989C>G | ENSP00000508251.1:p.Pro330Arg | |
| ENST00000682530.1:c.*963C>G | ENSP00000506805.1:n.*963C>G | |
| ENST00000683197.1:c.989C>G | ENSP00000507641.1:p.Pro330Arg | |
| ENST00000683411.1:c.581C>G | ENSP00000508397.1:p.Pro194Arg | |
| ENST00000683437.1:c.581C>G | ENSP00000508408.1:p.Pro194Arg | |
| ENST00000683613.1:n.2025C>G | ||
| ENST00000683834.1:n.1231C>G | ||
| ENST00000684663.1:c.986C>G | ENSP00000508009.1:p.Pro329Arg | |
| ENST00000324559.9:c.1031C>G MANE Select | ENSP00000315371.9:p.Pro344Arg | |
| ENST00000648804.1:n.1366C>G | ||
| ENST00000324559.8:c.1031C>G | ENSP00000315371.8:p.Pro344Arg | |
| NM_001142649.1:c.1028C>G | NP_001136121.1:p.Pro343Arg | |
| NM_213599.2:c.1031C>G , LRG_868t1:c.1031C>G | NP_998764.1:p.Pro344Arg | |
| XM_005252820.2:c.989C>G | XP_005252877.2:p.Pro330Arg | |
| XM_005252821.2:c.986C>G | XP_005252878.2:p.Pro329Arg | |
| XM_005252822.3:c.953C>G | XP_005252879.1:p.Pro318Arg | |
| XM_005252823.3:c.950C>G | XP_005252880.1:p.Pro317Arg | |
| XM_011519949.1:c.938C>G | XP_011518251.1:p.Pro313Arg | |
| XM_005252820.3:c.989C>G | XP_005252877.2:p.Pro330Arg | |
| XM_005252821.3:c.986C>G | XP_005252878.2:p.Pro329Arg | |
| XM_005252822.4:c.953C>G | XP_005252879.1:p.Pro318Arg | |
| XM_011519949.2:c.938C>G | XP_011518251.1:p.Pro313Arg | |
| NM_001142649.2:c.1028C>G | NP_001136121.1:p.Pro343Arg | |
| NM_213599.3:c.1031C>G MANE Select | NP_998764.1:p.Pro344Arg |