Linked Data
ClinVar Variation Id:
30247
ClinVar RCV Id:
RCV000023171
dbSNP Id:
rs387906832
gnomAD v2:
10-27798806-T-A
gnomAD v4:
10-27509877-T-A
PubMed:
PMID:21473985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27509877T>A , CM000672.2:g.27509877T>A | GRCh38 |
| NC_000010.10:g.27798806T>A , CM000672.1:g.27798806T>A | GRCh37 |
| NC_000010.9:g.27838812T>A | NCBI36 |
| NG_032035.1:g.10704T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423465.2:c.-191T>A | ENSP00000407872.2:n.-191T>A | |
| ENST00000484281.2:n.168T>A | ||
| ENST00000535776.6:c.71T>A | ENSP00000439321.2:p.Leu24Gln | |
| ENST00000611151.5:c.71T>A | ENSP00000483927.2:p.Leu24Gln | |
| ENST00000621805.5:c.71T>A | ENSP00000478479.1:p.Leu24Gln | |
| ENST00000682082.1:c.71T>A | ENSP00000507542.1:p.Leu24Gln | |
| ENST00000682173.1:c.3T>A | ||
| ENST00000682181.1:c.71T>A | ENSP00000507392.1:p.Leu24Gln | |
| ENST00000682368.1:n.134+5440T>A | ||
| ENST00000682389.1:c.71T>A | ENSP00000507154.1:p.Leu24Gln | |
| ENST00000682518.1:n.147T>A | ||
| ENST00000682668.1:c.58T>A | ||
| ENST00000682852.1:c.71T>A | ENSP00000508341.1:p.Leu24Gln | |
| ENST00000682963.1:c.-93+5440T>A | ENSP00000507532.1:n.-93+5440T>A | |
| ENST00000683042.1:n.155T>A | ||
| ENST00000683419.1:c.71T>A | ENSP00000508094.1:p.Leu24Gln | |
| ENST00000683538.1:c.58T>A | ||
| ENST00000683610.1:n.109T>A | ||
| ENST00000683755.1:c.71T>A | ENSP00000506993.1:p.Leu24Gln | |
| ENST00000683797.1:c.-281T>A | ENSP00000508179.1:n.-281T>A | |
| ENST00000683816.1:c.71T>A | ENSP00000507834.1:p.Leu24Gln | |
| ENST00000683844.1:n.3T>A | ||
| ENST00000684393.1:c.71T>A | ENSP00000507136.1:p.Leu24Gln | |
| ENST00000684501.1:c.71T>A | ENSP00000507589.1:p.Leu24Gln | |
| ENST00000684744.1:n.269T>A | ||
| ENST00000356940.11:c.71T>A MANE Select | ENSP00000349415.7:p.Leu24Gln | |
| ENST00000356940.10:c.71T>A | ENSP00000349415.6:p.Leu24Gln | |
| ENST00000375802.7:c.71T>A | ENSP00000364960.3:p.Leu24Gln | |
| ENST00000423465.1:c.321T>A | ||
| ENST00000465772.5:n.64T>A | ||
| ENST00000484281.1:n.47T>A | ||
| ENST00000490236.2:n.117T>A | ||
| ENST00000535776.5:c.71T>A | ENSP00000439321.1:p.Leu24Gln | |
| ENST00000611151.4:c.71T>A | ENSP00000483927.1:p.Leu24Gln | |
| ENST00000621805.4:c.71T>A | ENSP00000478479.1:p.Leu24Gln | |
| NM_001256410.1:c.71T>A | NP_001243339.1:p.Leu24Gln | |
| NM_001256411.1:c.71T>A | NP_001243340.1:p.Leu24Gln | |
| NM_001256412.1:c.71T>A | NP_001243341.1:p.Leu24Gln | |
| NM_001256415.1:c.71T>A | NP_001243344.1:p.Leu24Gln | |
| NM_021252.4:c.71T>A | NP_067075.1:p.Leu24Gln | |
| NR_046172.1:n.267T>A | ||
| NM_001256410.2:c.71T>A | NP_001243339.1:p.Leu24Gln | |
| NM_001256411.2:c.71T>A | NP_001243340.1:p.Leu24Gln | |
| NM_001256412.2:c.71T>A | NP_001243341.1:p.Leu24Gln | |
| NM_001256415.2:c.71T>A | NP_001243344.1:p.Leu24Gln | |
| NM_021252.5:c.71T>A MANE Select | NP_067075.1:p.Leu24Gln | |
| NR_046172.2:n.137T>A |