Linked Data
ClinVar Variation Id:
1154201
ClinVar RCV Id:
RCV001496090
dbSNP Id:
rs145374203
gnomAD v3:
11-71435534-G-T
gnomAD v4:
11-71435534-G-T
MyVariant Identifiers:
chr11:g.71146580G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435534G>T , CM000673.2:g.71435534G>T | GRCh38 |
| NC_000011.9:g.71146580G>T , CM000673.1:g.71146580G>T | GRCh37 |
| NC_000011.8:g.70824228G>T | NCBI36 |
| NG_012655.2:g.17898C>A , LRG_340:g.17898C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1269C>A | ENSP00000435707.3:p.Gly423= | |
| ENST00000526780.6:c.1269C>A | ENSP00000435668.2:p.Gly423= | |
| ENST00000527316.6:c.1095C>A | ENSP00000435047.2:p.Gly365= | |
| ENST00000682708.1:c.1320C>A | ENSP00000506866.1:p.Gly440= | |
| ENST00000683287.1:c.1305C>A | ENSP00000507607.1:p.Gly435= | |
| ENST00000683714.1:c.*32C>A | ENSP00000508207.1:n.*32C>A | |
| ENST00000684396.1:n.1309C>A | ||
| ENST00000685320.1:c.684C>A | ENSP00000509319.1:p.Gly228= | |
| ENST00000690257.1:c.1173C>A | ENSP00000510750.1:p.Gly391= | |
| ENST00000355527.8:c.1269C>A MANE Select | ENSP00000347717.4:p.Gly423= | |
| ENST00000355527.7:c.1269C>A | ENSP00000347717.3:p.Gly423= | |
| ENST00000407721.6:c.1269C>A | ENSP00000384739.2:p.Gly423= | |
| ENST00000525137.1:c.770C>A | ENSP00000435956.1:n.770C>A | |
| ENST00000533800.5:c.519C>A | ENSP00000435011.1:p.Gly173= | |
| ENST00000534795.5:c.319+2278C>A | ||
| NM_001163817.1:c.1269C>A | NP_001157289.1:p.Gly423= | |
| NM_001360.2:c.1269C>A , LRG_340t1:c.1269C>A | NP_001351.2:p.Gly423= | |
| XM_011544777.1:c.*32C>A | XP_011543079.1:n.*32C>A | |
| XM_011544777.2:c.*32C>A | XP_011543079.1:n.*32C>A | |
| NM_001163817.2:c.1269C>A | NP_001157289.1:p.Gly423= | |
| NM_001360.3:c.1269C>A MANE Select | NP_001351.2:p.Gly423= |