Linked Data
ClinVar Variation Id:
227258
dbSNP Id:
rs147841606
ExAC:
14:31348684 A / G
gnomAD v2:
14-31348684-A-G
gnomAD v3:
14-30879478-A-G
gnomAD v4:
14-30879478-A-G
ERepo:
CA7143032/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30879478A>G , CM000676.2:g.30879478A>G | GRCh38 |
| NC_000014.8:g.31348684A>G , CM000676.1:g.31348684A>G | GRCh37 |
| NC_000014.7:g.30418435A>G | NCBI36 |
| NG_008211.2:g.9944A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216361.9:c.624A>G | ENSP00000216361.5:p.Pro208= | |
| ENST00000396618.9:c.429A>G MANE Select | ENSP00000379862.3:p.Pro143= | |
| ENST00000555117.2:c.429A>G | ENSP00000493569.1:p.Pro143= | |
| ENST00000643575.1:c.429A>G | ENSP00000494838.1:p.Pro143= | |
| ENST00000643697.1:n.674A>G | ||
| ENST00000644874.2:c.429A>G | ENSP00000496360.1:p.Pro143= | |
| ENST00000216361.8:c.429A>G | ENSP00000216361.4:p.Pro143= | |
| ENST00000396618.7:c.429A>G | ENSP00000379862.3:p.Pro143= | |
| ENST00000460581.6:c.93A>G | ENSP00000451713.1:p.Pro31= | |
| ENST00000475087.5:c.429A>G | ENSP00000451528.1:p.Pro143= | |
| ENST00000553772.5:c.240-974A>G | ENSP00000452343.1:n.240-974A>G | |
| ENST00000553833.5:n.583A>G | ||
| ENST00000555881.5:c.83-974A>G | ENSP00000452569.1:n.83-974A>G | |
| ENST00000556908.5:c.381A>G | ENSP00000452541.1:p.Pro127= | |
| ENST00000557065.1:c.211A>G | ENSP00000451629.1:n.211A>G | |
| NM_001135058.1:c.429A>G | NP_001128530.1:p.Pro143= | |
| NM_004086.2:c.429A>G | NP_004077.1:p.Pro143= | |
| NR_038356.1:n.1618-2926T>C | ||
| XM_011536539.1:c.429A>G | XP_011534841.1:p.Pro143= | |
| NM_001347720.1:c.624A>G | NP_001334649.1:p.Pro208= | |
| XM_017021071.1:c.624A>G | XP_016876560.1:p.Pro208= | |
| XM_024449506.1:c.429A>G | XP_024305274.1:p.Pro143= | |
| NM_004086.3:c.429A>G MANE Select | NP_004077.1:p.Pro143= | |
| NM_001135058.2:c.429A>G | NP_001128530.1:p.Pro143= | |
| NM_001347720.2:c.624A>G | NP_001334649.1:p.Pro208= |