Linked Data
ClinVar Variation Id:
854120
ClinVar RCV Id:
RCV001059092
dbSNP Id:
rs1356628460
gnomAD v2:
11-6638015-C-G
gnomAD v4:
11-6616784-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616784C>G , CM000673.2:g.6616784C>G | GRCh38 |
| NC_000011.9:g.6638015C>G , CM000673.1:g.6638015C>G | GRCh37 |
| NC_000011.8:g.6594591C>G | NCBI36 |
| NG_008653.1:g.7678G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.649G>C | ENSP00000507321.1:p.Ala217Pro | |
| ENST00000299427.12:c.763G>C MANE Select | ENSP00000299427.6:p.Ala255Pro | |
| ENST00000436873.7:c.312+517G>C | ||
| ENST00000524788.2:n.1922G>C | ||
| ENST00000524903.2:n.2038G>C | ||
| ENST00000528807.2:n.419G>C | ||
| ENST00000530040.2:n.480-281G>C | ||
| ENST00000533371.6:c.34G>C | ENSP00000437066.1:p.Ala12Pro | |
| ENST00000642892.1:c.34G>C | ENSP00000494165.1:p.Ala12Pro | |
| ENST00000643439.1:c.*503G>C | ENSP00000495849.1:n.*503G>C | |
| ENST00000643479.1:n.792G>C | ||
| ENST00000643516.1:c.396-281G>C | ||
| ENST00000644151.1:n.2202G>C | ||
| ENST00000644218.1:c.763G>C | ENSP00000493574.1:p.Ala255Pro | |
| ENST00000644683.1:c.*216G>C | ENSP00000494085.1:n.*216G>C | |
| ENST00000644810.1:c.484G>C | ENSP00000495895.1:p.Ala162Pro | |
| ENST00000644831.1:n.939G>C | ||
| ENST00000644933.1:c.34G>C | ENSP00000496133.1:p.Ala12Pro | |
| ENST00000645020.1:n.2053G>C | ||
| ENST00000645285.1:c.34G>C | ENSP00000495058.1:p.Ala12Pro | |
| ENST00000645331.1:n.1129G>C | ||
| ENST00000645620.1:c.34G>C | ENSP00000493657.1:p.Ala12Pro | |
| ENST00000646777.1:n.939G>C | ||
| ENST00000647016.1:n.1243G>C | ||
| ENST00000647152.1:c.34G>C | ENSP00000495893.1:p.Ala12Pro | |
| ENST00000647209.1:c.*632G>C | ENSP00000495558.1:n.*632G>C | |
| ENST00000647346.1:n.1783G>C | ||
| ENST00000299427.10:c.763G>C | ENSP00000299427.6:p.Ala255Pro | |
| ENST00000436873.6:c.451-281G>C | ENSP00000398136.2:n.451-281G>C | |
| ENST00000524788.1:n.463G>C | ||
| ENST00000528807.1:n.313G>C | ||
| ENST00000533371.5:c.34G>C | ENSP00000437066.1:p.Ala12Pro | |
| ENST00000611494.4:c.763G>C | ENSP00000484546.1:p.Ala255Pro | |
| NM_000391.3:c.763G>C | NP_000382.3:p.Ala255Pro | |
| NM_000391.4:c.763G>C MANE Select | NP_000382.3:p.Ala255Pro |