Linked Data
ClinVar Variation Id:
136368
dbSNP Id:
rs369380330
ExAC:
5:125912806 G / A
gnomAD v2:
5-125912806-G-A
gnomAD v3:
5-126577114-G-A
gnomAD v4:
5-126577114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577114G>A , CM000667.2:g.126577114G>A | GRCh38 |
| NC_000005.9:g.125912806G>A , CM000667.1:g.125912806G>A | GRCh37 |
| NC_000005.8:g.125940705G>A | NCBI36 |
| NG_008600.2:g.23277C>T | |
| NG_008600.3:g.23277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.615C>T MANE Select | ENSP00000387123.3:p.Asn205= | |
| ENST00000412186.2:c.491C>T | ENSP00000414536.2:n.491C>T | |
| ENST00000413020.6:c.615C>T | ENSP00000487936.1:p.Asn205= | |
| ENST00000458249.6:c.*524C>T | ENSP00000403929.1:n.*524C>T | |
| ENST00000503281.6:c.204C>T | ||
| ENST00000509270.2:c.549C>T | ENSP00000449318.2:p.Asn183= | |
| ENST00000509459.6:c.163C>T | ||
| ENST00000511266.6:n.1337C>T | ||
| ENST00000635851.1:c.613C>T | ||
| ENST00000636062.1:n.510C>T | ||
| ENST00000636225.1:c.*424C>T | ENSP00000490797.1:n.*424C>T | |
| ENST00000636286.1:n.333C>T | ||
| ENST00000636743.1:c.495C>T | ENSP00000489725.1:p.Asn165= | |
| ENST00000636808.1:c.*424C>T | ENSP00000490833.1:n.*424C>T | |
| ENST00000636872.1:c.775C>T | ENSP00000490919.1:n.775C>T | |
| ENST00000636879.1:c.660C>T | ENSP00000490811.1:p.Asn220= | |
| ENST00000636886.1:c.414C>T | ENSP00000490371.1:p.Asn138= | |
| ENST00000637206.1:c.615C>T | ENSP00000489895.1:p.Asn205= | |
| ENST00000637272.1:c.615C>T | ENSP00000489686.1:p.Asn205= | |
| ENST00000637292.1:c.268C>T | ||
| ENST00000637782.1:c.615C>T | ENSP00000490024.1:p.Asn205= | |
| ENST00000637964.1:c.561C>T | ENSP00000490291.1:p.Asn187= | |
| ENST00000638008.1:c.*557C>T | ENSP00000490400.1:n.*557C>T | |
| ENST00000409134.7:c.615C>T | ENSP00000387123.3:p.Asn205= | |
| ENST00000413020.5:c.615C>T | ENSP00000487936.1:p.Asn205= | |
| ENST00000433026.5:n.142C>T | ||
| ENST00000447989.6:c.696C>T | ENSP00000414132.2:p.Asn232= | |
| ENST00000458249.5:c.775C>T | ENSP00000403929.1:n.775C>T | |
| ENST00000503281.5:c.204C>T | ||
| ENST00000509459.5:c.163C>T | ||
| ENST00000510111.6:c.528C>T | ENSP00000447388.1:p.Asn176= | |
| ENST00000511266.5:n.446C>T | ||
| ENST00000553117.5:c.615C>T | ENSP00000448593.1:p.Asn205= | |
| NM_001182.4:c.615C>T | NP_001173.2:p.Asn205= | |
| NM_001201377.1:c.531C>T | NP_001188306.1:p.Asn177= | |
| NM_001202404.1:c.696C>T | NP_001189333.1:p.Asn232= | |
| XM_011543417.1:c.210C>T | XP_011541719.1:p.Asn70= | |
| XM_011543417.2:c.210C>T | XP_011541719.1:p.Asn70= | |
| NM_001182.5:c.615C>T MANE Select | NP_001173.2:p.Asn205= | |
| NM_001201377.2:c.531C>T | NP_001188306.1:p.Asn177= | |
| NM_001202404.2:c.615C>T | NP_001189333.2:p.Asn205= |