Linked Data
dbSNP Id:
rs2134591574
gnomAD v4:
11-6615195-G-C
MyVariant Identifiers:
chr11:g.6636426G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615195G>C , CM000673.2:g.6615195G>C | GRCh38 |
| NC_000011.9:g.6636426G>C , CM000673.1:g.6636426G>C | GRCh37 |
| NC_000011.8:g.6593002G>C | NCBI36 |
| NG_008653.1:g.9267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1287C>G | ENSP00000507321.1:p.Pro429= | |
| ENST00000299427.12:c.1401C>G MANE Select | ENSP00000299427.6:p.Pro467= | |
| ENST00000524611.2:n.261C>G | ||
| ENST00000524924.2:n.521C>G | ||
| ENST00000533371.6:c.672C>G | ENSP00000437066.1:p.Pro224= | |
| ENST00000642892.1:c.672C>G | ENSP00000494165.1:p.Pro224= | |
| ENST00000643342.1:c.474C>G | ||
| ENST00000643439.1:c.*1141C>G | ENSP00000495849.1:n.*1141C>G | |
| ENST00000643479.1:n.1587C>G | ||
| ENST00000643516.1:c.910C>G | ||
| ENST00000644218.1:c.1212C>G | ENSP00000493574.1:p.Pro404= | |
| ENST00000644683.1:c.*854C>G | ENSP00000494085.1:n.*854C>G | |
| ENST00000644810.1:c.1122C>G | ENSP00000495895.1:p.Pro374= | |
| ENST00000644831.1:n.1577C>G | ||
| ENST00000644933.1:c.*267C>G | ENSP00000496133.1:n.*267C>G | |
| ENST00000645285.1:c.*267C>G | ENSP00000495058.1:n.*267C>G | |
| ENST00000645331.1:n.2606C>G | ||
| ENST00000645620.1:c.672C>G | ENSP00000493657.1:p.Pro224= | |
| ENST00000646691.1:n.1288C>G | ||
| ENST00000646777.1:n.1734C>G | ||
| ENST00000647016.1:n.1881C>G | ||
| ENST00000647152.1:c.672C>G | ENSP00000495893.1:p.Pro224= | |
| ENST00000647209.1:c.*1270C>G | ENSP00000495558.1:n.*1270C>G | |
| ENST00000647346.1:n.2421C>G | ||
| ENST00000299427.10:c.1401C>G | ENSP00000299427.6:p.Pro467= | |
| ENST00000524611.1:n.279C>G | ||
| ENST00000533371.5:c.672C>G | ENSP00000437066.1:p.Pro224= | |
| ENST00000611494.4:c.1401C>G | ENSP00000484546.1:p.Pro467= | |
| NM_000391.3:c.1401C>G | NP_000382.3:p.Pro467= | |
| NM_000391.4:c.1401C>G MANE Select | NP_000382.3:p.Pro467= |