Linked Data
ClinVar Variation Id:
4492
dbSNP Id:
rs121908185
ExAC:
1:26140381 G / A
gnomAD v2:
1-26140381-G-A
gnomAD v3:
1-25813890-G-A
gnomAD v4:
1-25813890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25813890G>A , CM000663.2:g.25813890G>A | GRCh38 |
| NC_000001.10:g.26140381G>A , CM000663.1:g.26140381G>A | GRCh37 |
| NC_000001.9:g.26012968G>A | NCBI36 |
| NG_009930.1:g.18715G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354177.9:c.1226G>A | ENSP00000346109.5:p.Arg409Gln | |
| ENST00000494537.2:c.1384G>A | ENSP00000508308.1:p.Gly462Arg | |
| ENST00000361547.7:c.1397G>A MANE Select | ENSP00000355141.2:p.Arg466Gln | |
| ENST00000354177.8:c.1295G>A | ENSP00000346109.4:p.Arg432Gln | |
| ENST00000361547.6:c.1397G>A | ENSP00000355141.2:p.Arg466Gln | |
| ENST00000374315.1:c.1295G>A | ENSP00000363434.1:p.Arg432Gln | |
| ENST00000494537.1:n.164G>A | ||
| ENST00000559265.1:n.255+2011G>A | ||
| ENST00000630065.2:c.-176G>A | ENSP00000487549.1:n.-176G>A | |
| NM_020451.2:c.1397G>A | NP_065184.2:p.Arg466Gln | |
| NM_206926.1:c.1295G>A | NP_996809.1:p.Arg432Gln | |
| NM_020451.3:c.1397G>A MANE Select | NP_065184.2:p.Arg466Gln | |
| NM_206926.2:c.1295G>A | NP_996809.1:p.Arg432Gln |