Linked Data
ClinVar Variation Id:
8525
dbSNP Id:
rs121909307
ExAC:
20:33530291 C / T
gnomAD v2:
20-33530291-C-T
gnomAD v3:
20-34942488-C-T
gnomAD v4:
20-34942488-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34942488C>T , CM000682.2:g.34942488C>T | GRCh38 |
| NC_000020.10:g.33530291C>T , CM000682.1:g.33530291C>T | GRCh37 |
| NC_000020.9:g.32993952C>T | NCBI36 |
| NG_008848.1:g.18311G>A | |
| NG_008848.2:g.18540G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642493.1:c.*198G>A | ENSP00000493524.1:n.*198G>A | |
| ENST00000642498.1:c.491G>A | ENSP00000493631.1:p.Arg164Gln | |
| ENST00000642538.1:c.351+443G>A | ENSP00000493927.1:n.351+443G>A | |
| ENST00000643188.1:c.491G>A | ENSP00000493903.1:p.Arg164Gln | |
| ENST00000643443.1:c.*198G>A | ENSP00000495572.1:n.*198G>A | |
| ENST00000643502.1:c.148G>A | ||
| ENST00000643908.1:n.854G>A | ||
| ENST00000644538.1:n.768G>A | ||
| ENST00000644793.1:c.491G>A | ENSP00000495750.1:p.Arg164Gln | |
| ENST00000645408.1:c.91G>A | ||
| ENST00000645723.1:n.1730G>A | ||
| ENST00000646405.1:c.351+443G>A | ENSP00000493744.1:n.351+443G>A | |
| ENST00000646497.1:n.438G>A | ||
| ENST00000646502.1:n.973G>A | ||
| ENST00000646512.1:n.704G>A | ||
| ENST00000646735.1:c.275+3465G>A | ENSP00000493763.1:n.275+3465G>A | |
| ENST00000646766.1:c.*121G>A | ENSP00000494333.1:n.*121G>A | |
| ENST00000651619.1:c.491G>A MANE Select | ENSP00000498303.1:p.Arg164Gln | |
| ENST00000216951.6:c.491G>A | ENSP00000216951.2:p.Arg164Gln | |
| ENST00000451957.2:c.275+3465G>A | ENSP00000407517.2:n.275+3465G>A | |
| NM_000178.2:c.491G>A | NP_000169.1:p.Arg164Gln | |
| XM_005260406.3:c.491G>A | XP_005260463.1:p.Arg164Gln | |
| XM_011528796.1:c.491G>A | XP_011527098.1:p.Arg164Gln | |
| NM_000178.4:c.491G>A MANE Select | NP_000169.1:p.Arg164Gln | |
| NM_001322494.1:c.491G>A | NP_001309423.1:p.Arg164Gln | |
| NM_001322495.1:c.491G>A | NP_001309424.1:p.Arg164Gln |