Linked Data
ClinVar Variation Id:
430379
dbSNP Id:
rs199800166
ExAC:
16:89350266 C / T
gnomAD v2:
16-89350266-C-T
gnomAD v3:
16-89283858-C-T
gnomAD v4:
16-89283858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89283858C>T , CM000678.2:g.89283858C>T | GRCh38 |
| NC_000016.9:g.89350266C>T , CM000678.1:g.89350266C>T | GRCh37 |
| NC_000016.8:g.87877767C>T | NCBI36 |
| NG_032003.1:g.211704G>A | |
| NG_032003.2:g.211704G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301030.10:c.2684G>A MANE Select | ENSP00000301030.4:p.Arg895Gln | |
| ENST00000330736.10:c.*2487G>A | ENSP00000330815.5:n.*2487G>A | |
| ENST00000378330.7:c.2684G>A | ENSP00000367581.2:p.Arg895Gln | |
| ENST00000642443.1:c.2309G>A | ENSP00000493644.1:p.Arg770Gln | |
| ENST00000642600.1:c.2684G>A | ENSP00000495226.1:p.Arg895Gln | |
| ENST00000644285.1:c.744+4670G>A | ENSP00000496476.1:n.744+4670G>A | |
| ENST00000301030.8:c.2684G>A | ENSP00000301030.4:p.Arg895Gln | |
| ENST00000330736.9:c.*2487G>A | ENSP00000330815.5:n.*2487G>A | |
| ENST00000378330.6:c.2684G>A | ENSP00000367581.2:p.Arg895Gln | |
| ENST00000562194.1:c.151+4670G>A | ||
| NM_001256182.1:c.2684G>A | NP_001243111.1:p.Arg895Gln | |
| NM_001256183.1:c.2684G>A | NP_001243112.1:p.Arg895Gln | |
| NM_013275.5:c.2684G>A | NP_037407.4:p.Arg895Gln | |
| XM_006721181.1:c.2582G>A | XP_006721244.1:p.Arg861Gln | |
| XM_006721184.2:c.2387G>A | XP_006721247.1:p.Arg796Gln | |
| XM_011523051.1:c.2684G>A | XP_011521353.1:p.Arg895Gln | |
| XM_011523052.1:c.2684G>A | XP_011521354.1:p.Arg895Gln | |
| XM_011523053.1:c.2684G>A | XP_011521355.1:p.Arg895Gln | |
| XM_011523054.1:c.2582G>A | XP_011521356.1:p.Arg861Gln | |
| XM_011523055.1:c.2582G>A | XP_011521357.1:p.Arg861Gln | |
| XM_011523056.1:c.2555G>A | XP_011521358.1:p.Arg852Gln | |
| XM_011523057.1:c.2684G>A | XP_011521359.1:p.Arg895Gln | |
| XM_011523051.3:c.2684G>A | XP_011521353.1:p.Arg895Gln | |
| XM_011523053.2:c.2684G>A | XP_011521355.1:p.Arg895Gln | |
| XM_011523054.2:c.2582G>A | XP_011521356.1:p.Arg861Gln | |
| XM_011523055.2:c.2582G>A | XP_011521357.1:p.Arg861Gln | |
| XM_011523056.2:c.2555G>A | XP_011521358.1:p.Arg852Gln | |
| XM_011523057.2:c.2684G>A | XP_011521359.1:p.Arg895Gln | |
| XM_017023182.2:c.2684G>A | XP_016878671.1:p.Arg895Gln | |
| XM_017023183.1:c.2684G>A | XP_016878672.1:p.Arg895Gln | |
| XM_017023184.1:c.2684G>A | XP_016878673.1:p.Arg895Gln | |
| XM_017023185.1:c.2684G>A | XP_016878674.1:p.Arg895Gln | |
| XM_017023186.1:c.2684G>A | XP_016878675.1:p.Arg895Gln | |
| XM_017023187.1:c.2684G>A | XP_016878676.1:p.Arg895Gln | |
| XM_024450244.1:c.2582G>A | XP_024306012.1:p.Arg861Gln | |
| NM_013275.6:c.2684G>A MANE Select | NP_037407.4:p.Arg895Gln | |
| NM_001256182.2:c.2684G>A | NP_001243111.1:p.Arg895Gln | |
| NM_001256183.2:c.2684G>A | NP_001243112.1:p.Arg895Gln |