Linked Data
ClinVar Variation Id:
371183
ClinVar RCV Id:
RCV000410293
dbSNP Id:
rs1057517070
gnomAD v4:
11-71437810-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437810A>C , CM000673.2:g.71437810A>C | GRCh38 |
| NC_000011.9:g.71148856A>C , CM000673.1:g.71148856A>C | GRCh37 |
| NC_000011.8:g.70826504A>C | NCBI36 |
| NG_012655.2:g.15622T>G , LRG_340:g.15622T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.963+2T>G | ENSP00000435707.3:n.963+2T>G | |
| ENST00000526780.6:c.963+2T>G | ENSP00000435668.2:n.963+2T>G | |
| ENST00000527316.6:c.789+2T>G | ENSP00000435047.2:n.789+2T>G | |
| ENST00000682708.1:c.1014+2T>G | ENSP00000506866.1:n.1014+2T>G | |
| ENST00000682880.1:c.965T>G | ENSP00000507520.1:p.Val322Gly | |
| ENST00000683287.1:c.999+2T>G | ENSP00000507607.1:n.999+2T>G | |
| ENST00000683714.1:c.965T>G | ENSP00000508207.1:p.Val322Gly | |
| ENST00000684396.1:n.1003+2T>G | ||
| ENST00000685320.1:c.378+2T>G | ENSP00000509319.1:n.378+2T>G | |
| ENST00000690257.1:c.867+2T>G | ENSP00000510750.1:n.867+2T>G | |
| ENST00000355527.8:c.963+2T>G MANE Select | ENSP00000347717.4:n.963+2T>G | |
| ENST00000355527.7:c.963+2T>G | ENSP00000347717.3:n.963+2T>G | |
| ENST00000407721.6:c.963+2T>G | ENSP00000384739.2:n.963+2T>G | |
| ENST00000525137.1:c.330+2T>G | ENSP00000435956.1:n.330+2T>G | |
| ENST00000533800.5:c.213+2T>G | ENSP00000435011.1:n.213+2T>G | |
| ENST00000534795.5:c.319+2T>G | ||
| NM_001163817.1:c.963+2T>G | NP_001157289.1:n.963+2T>G | |
| NM_001360.2:c.963+2T>G , LRG_340t1:c.963+2T>G | NP_001351.2:n.963+2T>G | |
| XM_011544777.1:c.963+2T>G | XP_011543079.1:n.963+2T>G | |
| XM_011544777.2:c.963+2T>G | XP_011543079.1:n.963+2T>G | |
| NM_001163817.2:c.963+2T>G | NP_001157289.1:n.963+2T>G | |
| NM_001360.3:c.963+2T>G MANE Select | NP_001351.2:n.963+2T>G |