Linked Data
ClinVar Variation Id:
1430961
ClinVar RCV Id:
RCV001971954
dbSNP Id:
rs142213147
ExAC:
11:71146764 C / T
gnomAD v2:
11-71146764-C-T
gnomAD v3:
11-71435718-C-T
gnomAD v4:
11-71435718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435718C>T , CM000673.2:g.71435718C>T | GRCh38 |
| NC_000011.9:g.71146764C>T , CM000673.1:g.71146764C>T | GRCh37 |
| NC_000011.8:g.70824412C>T | NCBI36 |
| NG_012655.2:g.17714G>A , LRG_340:g.17714G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1085G>A | ENSP00000435707.3:p.Arg362His | |
| ENST00000526780.6:c.1085G>A | ENSP00000435668.2:p.Arg362His | |
| ENST00000527316.6:c.911G>A | ENSP00000435047.2:p.Arg304His | |
| ENST00000682708.1:c.1136G>A | ENSP00000506866.1:p.Arg379His | |
| ENST00000683287.1:c.1121G>A | ENSP00000507607.1:p.Arg374His | |
| ENST00000683714.1:c.1093G>A | ENSP00000508207.1:p.Ala365Thr | |
| ENST00000684396.1:n.1125G>A | ||
| ENST00000685320.1:c.500G>A | ENSP00000509319.1:p.Arg167His | |
| ENST00000690257.1:c.989G>A | ENSP00000510750.1:p.Arg330His | |
| ENST00000355527.8:c.1085G>A MANE Select | ENSP00000347717.4:p.Arg362His | |
| ENST00000355527.7:c.1085G>A | ENSP00000347717.3:p.Arg362His | |
| ENST00000407721.6:c.1085G>A | ENSP00000384739.2:p.Arg362His | |
| ENST00000525137.1:c.586G>A | ENSP00000435956.1:p.Ala196Thr | |
| ENST00000533800.5:c.335G>A | ENSP00000435011.1:p.Arg112His | |
| ENST00000534795.5:c.319+2094G>A | ||
| NM_001163817.1:c.1085G>A | NP_001157289.1:p.Arg362His | |
| NM_001360.2:c.1085G>A , LRG_340t1:c.1085G>A | NP_001351.2:p.Arg362His | |
| XM_011544777.1:c.1219G>A | XP_011543079.1:p.Ala407Thr | |
| XM_011544777.2:c.1219G>A | XP_011543079.1:p.Ala407Thr | |
| NM_001163817.2:c.1085G>A | NP_001157289.1:p.Arg362His | |
| NM_001360.3:c.1085G>A MANE Select | NP_001351.2:p.Arg362His |