Linked Data
ClinVar Variation Id:
1108347
ClinVar RCV Id:
RCV001433818
dbSNP Id:
rs1468084166
gnomAD v4:
11-71435615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435615C>T , CM000673.2:g.71435615C>T | GRCh38 |
| NC_000011.9:g.71146661C>T , CM000673.1:g.71146661C>T | GRCh37 |
| NC_000011.8:g.70824309C>T | NCBI36 |
| NG_012655.2:g.17817G>A , LRG_340:g.17817G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1188G>A | ENSP00000435707.3:p.Val396= | |
| ENST00000526780.6:c.1188G>A | ENSP00000435668.2:p.Val396= | |
| ENST00000527316.6:c.1014G>A | ENSP00000435047.2:p.Val338= | |
| ENST00000682708.1:c.1239G>A | ENSP00000506866.1:p.Val413= | |
| ENST00000683287.1:c.1224G>A | ENSP00000507607.1:p.Val408= | |
| ENST00000683714.1:c.1196G>A | ENSP00000508207.1:p.Cys399Tyr | |
| ENST00000684396.1:n.1228G>A | ||
| ENST00000685320.1:c.603G>A | ENSP00000509319.1:p.Val201= | |
| ENST00000690257.1:c.1092G>A | ENSP00000510750.1:p.Val364= | |
| ENST00000355527.8:c.1188G>A MANE Select | ENSP00000347717.4:p.Val396= | |
| ENST00000355527.7:c.1188G>A | ENSP00000347717.3:p.Val396= | |
| ENST00000407721.6:c.1188G>A | ENSP00000384739.2:p.Val396= | |
| ENST00000525137.1:c.689G>A | ENSP00000435956.1:p.Cys230Tyr | |
| ENST00000533800.5:c.438G>A | ENSP00000435011.1:p.Val146= | |
| ENST00000534795.5:c.319+2197G>A | ||
| NM_001163817.1:c.1188G>A | NP_001157289.1:p.Val396= | |
| NM_001360.2:c.1188G>A , LRG_340t1:c.1188G>A | NP_001351.2:p.Val396= | |
| XM_011544777.1:c.1322G>A | XP_011543079.1:p.Cys441Tyr | |
| XM_011544777.2:c.1322G>A | XP_011543079.1:p.Cys441Tyr | |
| NM_001163817.2:c.1188G>A | NP_001157289.1:p.Val396= | |
| NM_001360.3:c.1188G>A MANE Select | NP_001351.2:p.Val396= |