Linked Data
ClinVar Variation Id:
1150176
ClinVar RCV Id:
RCV001490690
dbSNP Id:
rs777267276
ExAC:
11:6635798 C / T
gnomAD v2:
11-6635798-C-T
gnomAD v4:
11-6614567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614567C>T , CM000673.2:g.6614567C>T | GRCh38 |
| NC_000011.9:g.6635798C>T , CM000673.1:g.6635798C>T | GRCh37 |
| NC_000011.8:g.6592374C>T | NCBI36 |
| NG_008653.1:g.9895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1557G>A | ENSP00000507321.1:p.Leu519= | |
| ENST00000299427.12:c.1671G>A MANE Select | ENSP00000299427.6:p.Leu557= | |
| ENST00000524611.2:n.710G>A | ||
| ENST00000533371.6:c.942G>A | ENSP00000437066.1:p.Leu314= | |
| ENST00000642892.1:c.942G>A | ENSP00000494165.1:p.Leu314= | |
| ENST00000643342.1:c.744G>A | ||
| ENST00000643439.1:c.*1411G>A | ENSP00000495849.1:n.*1411G>A | |
| ENST00000643479.1:n.1857G>A | ||
| ENST00000643516.1:c.1180G>A | ||
| ENST00000644218.1:c.1482G>A | ENSP00000493574.1:p.Leu494= | |
| ENST00000644683.1:c.*1124G>A | ENSP00000494085.1:n.*1124G>A | |
| ENST00000644810.1:c.1392G>A | ENSP00000495895.1:p.Leu464= | |
| ENST00000644831.1:n.1847G>A | ||
| ENST00000644933.1:c.*537G>A | ENSP00000496133.1:n.*537G>A | |
| ENST00000645285.1:c.*537G>A | ENSP00000495058.1:n.*537G>A | |
| ENST00000645331.1:n.2876G>A | ||
| ENST00000645620.1:c.942G>A | ENSP00000493657.1:p.Leu314= | |
| ENST00000646691.1:n.1558G>A | ||
| ENST00000646777.1:n.2004G>A | ||
| ENST00000647016.1:n.2151G>A | ||
| ENST00000647152.1:c.942G>A | ENSP00000495893.1:p.Leu314= | |
| ENST00000647209.1:c.*1540G>A | ENSP00000495558.1:n.*1540G>A | |
| ENST00000647346.1:n.2691G>A | ||
| ENST00000299427.10:c.1671G>A | ENSP00000299427.6:p.Leu557= | |
| ENST00000533371.5:c.942G>A | ENSP00000437066.1:p.Leu314= | |
| ENST00000611494.4:c.1670G>A | ENSP00000484546.1:p.Ter557= | |
| NM_000391.3:c.1671G>A | NP_000382.3:p.Leu557= | |
| NM_000391.4:c.1671G>A MANE Select | NP_000382.3:p.Leu557= |