Linked Data
dbSNP Id:
rs923905452
gnomAD v2:
11-71146961-C-T
gnomAD v3:
11-71435915-C-T
gnomAD v4:
11-71435915-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435915C>T , CM000673.2:g.71435915C>T | GRCh38 |
| NC_000011.9:g.71146961C>T , CM000673.1:g.71146961C>T | GRCh37 |
| NC_000011.8:g.70824609C>T | NCBI36 |
| NG_012655.2:g.17517G>A , LRG_340:g.17517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.964-76G>A | ENSP00000435707.3:n.964-76G>A | |
| ENST00000526780.6:c.964-76G>A | ENSP00000435668.2:n.964-76G>A | |
| ENST00000527316.6:c.790-76G>A | ENSP00000435047.2:n.790-76G>A | |
| ENST00000682708.1:c.1015-76G>A | ENSP00000506866.1:n.1015-76G>A | |
| ENST00000683287.1:c.1000-76G>A | ENSP00000507607.1:n.1000-76G>A | |
| ENST00000683714.1:c.972-76G>A | ENSP00000508207.1:n.972-76G>A | |
| ENST00000684396.1:n.1004-76G>A | ||
| ENST00000685320.1:c.379-76G>A | ENSP00000509319.1:n.379-76G>A | |
| ENST00000690257.1:c.868-76G>A | ENSP00000510750.1:n.868-76G>A | |
| ENST00000355527.8:c.964-76G>A MANE Select | ENSP00000347717.4:n.964-76G>A | |
| ENST00000355527.7:c.964-76G>A | ENSP00000347717.3:n.964-76G>A | |
| ENST00000407721.6:c.964-76G>A | ENSP00000384739.2:n.964-76G>A | |
| ENST00000525137.1:c.389G>A | ENSP00000435956.1:p.Arg130His | |
| ENST00000533800.5:c.214-76G>A | ENSP00000435011.1:n.214-76G>A | |
| ENST00000534795.5:c.319+1897G>A | ||
| NM_001163817.1:c.964-76G>A | NP_001157289.1:n.964-76G>A | |
| NM_001360.2:c.964-76G>A , LRG_340t1:c.964-76G>A | NP_001351.2:n.964-76G>A | |
| XM_011544777.1:c.1022G>A | XP_011543079.1:p.Arg341His | |
| XM_011544777.2:c.1022G>A | XP_011543079.1:p.Arg341His | |
| NM_001163817.2:c.964-76G>A | NP_001157289.1:n.964-76G>A | |
| NM_001360.3:c.964-76G>A MANE Select | NP_001351.2:n.964-76G>A |