Linked Data
ClinVar Variation Id:
528464
dbSNP Id:
rs144971707
ExAC:
2:47221626 G / A
gnomAD v2:
2-47221626-G-A
gnomAD v3:
2-46994487-G-A
gnomAD v4:
2-46994487-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46994487G>A , CM000664.2:g.46994487G>A | GRCh38 |
| NC_000002.11:g.47221626G>A , CM000664.1:g.47221626G>A | GRCh37 |
| NC_000002.10:g.47075130G>A | NCBI36 |
| NG_034143.1:g.83359G>A | |
| NG_034143.2:g.83359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.2807G>A | ||
| ENST00000319190.11:c.974G>A MANE Select | ENSP00000316699.5:p.Arg325Gln | |
| ENST00000319190.9:c.974G>A | ENSP00000316699.5:p.Arg325Gln | |
| ENST00000394850.6:c.974G>A | ENSP00000378320.2:p.Arg325Gln | |
| ENST00000409245.5:c.872G>A | ENSP00000386307.1:p.Arg291Gln | |
| ENST00000409825.5:c.922G>A | ||
| ENST00000441914.5:c.843-649G>A | ||
| ENST00000461601.5:n.1299G>A | ||
| ENST00000474321.6:n.458G>A | ||
| ENST00000484061.5:n.257G>A | ||
| ENST00000491786.5:n.378G>A | ||
| NM_001288951.1:c.974G>A | NP_001275880.1:p.Arg325Gln | |
| NM_001288953.1:c.872G>A | NP_001275882.1:p.Arg291Gln | |
| NM_001288955.1:c.-61-649G>A | NP_001275884.1:n.-61-649G>A | |
| NM_020458.3:c.974G>A | NP_065191.2:p.Arg325Gln | |
| XM_005264439.2:c.617G>A | XP_005264496.1:p.Arg206Gln | |
| XM_011532998.1:c.617G>A | XP_011531300.1:p.Arg206Gln | |
| XM_011532999.1:c.974G>A | XP_011531301.1:p.Arg325Gln | |
| XM_011533000.1:c.194G>A | XP_011531302.1:p.Arg65Gln | |
| XR_939696.1:n.1279G>A | ||
| XM_005264439.4:c.617G>A | XP_005264496.1:p.Arg206Gln | |
| XM_011532998.3:c.617G>A | XP_011531300.1:p.Arg206Gln | |
| XM_011532999.2:c.974G>A | XP_011531301.1:p.Arg325Gln | |
| XM_011533000.3:c.194G>A | XP_011531302.1:p.Arg65Gln | |
| XM_017004524.1:c.974G>A | XP_016860013.1:p.Arg325Gln | |
| XM_017004525.1:c.806G>A | XP_016860014.1:p.Arg269Gln | |
| XM_017004526.1:c.974G>A | XP_016860015.1:p.Arg325Gln | |
| XM_017004529.1:c.974G>A | XP_016860018.1:p.Arg325Gln | |
| XR_001738853.2:n.1286G>A | ||
| XR_001738854.1:n.1285G>A | ||
| NM_020458.4:c.974G>A MANE Select | NP_065191.2:p.Arg325Gln | |
| NM_001288951.2:c.974G>A | NP_001275880.1:p.Arg325Gln | |
| NM_001288953.2:c.872G>A | NP_001275882.1:p.Arg291Gln | |
| NM_001288955.2:c.-61-649G>A | NP_001275884.1:n.-61-649G>A |