Linked Data
ClinVar Variation Id:
1469971
ClinVar RCV Id:
RCV001973141
dbSNP Id:
rs1251029614
gnomAD v2:
11-6636526-G-A
gnomAD v4:
11-6615295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615295G>A , CM000673.2:g.6615295G>A | GRCh38 |
| NC_000011.9:g.6636526G>A , CM000673.1:g.6636526G>A | GRCh37 |
| NC_000011.8:g.6593102G>A | NCBI36 |
| NG_008653.1:g.9167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1187C>T | ENSP00000507321.1:p.Pro396Leu | |
| ENST00000299427.12:c.1301C>T MANE Select | ENSP00000299427.6:p.Pro434Leu | |
| ENST00000524611.2:n.161C>T | ||
| ENST00000524924.2:n.421C>T | ||
| ENST00000533371.6:c.572C>T | ENSP00000437066.1:p.Pro191Leu | |
| ENST00000642892.1:c.572C>T | ENSP00000494165.1:p.Pro191Leu | |
| ENST00000643342.1:c.374C>T | ||
| ENST00000643439.1:c.*1041C>T | ENSP00000495849.1:n.*1041C>T | |
| ENST00000643479.1:n.1487C>T | ||
| ENST00000643516.1:c.810C>T | ||
| ENST00000644218.1:c.1112C>T | ENSP00000493574.1:p.Pro371Leu | |
| ENST00000644683.1:c.*754C>T | ENSP00000494085.1:n.*754C>T | |
| ENST00000644810.1:c.1022C>T | ENSP00000495895.1:p.Pro341Leu | |
| ENST00000644831.1:n.1477C>T | ||
| ENST00000644933.1:c.*167C>T | ENSP00000496133.1:n.*167C>T | |
| ENST00000645285.1:c.*167C>T | ENSP00000495058.1:n.*167C>T | |
| ENST00000645331.1:n.2506C>T | ||
| ENST00000645620.1:c.572C>T | ENSP00000493657.1:p.Pro191Leu | |
| ENST00000646691.1:n.1188C>T | ||
| ENST00000646777.1:n.1634C>T | ||
| ENST00000647016.1:n.1781C>T | ||
| ENST00000647152.1:c.572C>T | ENSP00000495893.1:p.Pro191Leu | |
| ENST00000647209.1:c.*1170C>T | ENSP00000495558.1:n.*1170C>T | |
| ENST00000647346.1:n.2321C>T | ||
| ENST00000299427.10:c.1301C>T | ENSP00000299427.6:p.Pro434Leu | |
| ENST00000524611.1:n.179C>T | ||
| ENST00000524924.1:n.256C>T | ||
| ENST00000532191.1:n.354C>T | ||
| ENST00000533371.5:c.572C>T | ENSP00000437066.1:p.Pro191Leu | |
| ENST00000611494.4:c.1301C>T | ENSP00000484546.1:p.Pro434Leu | |
| NM_000391.3:c.1301C>T | NP_000382.3:p.Pro434Leu | |
| NM_000391.4:c.1301C>T MANE Select | NP_000382.3:p.Pro434Leu |