Linked Data
ClinVar Variation Id:
415952
dbSNP Id:
rs140817689
ExAC:
16:78198138 G / T
gnomAD v2:
16-78198138-G-T
gnomAD v3:
16-78164241-G-T
gnomAD v4:
16-78164241-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78164241G>T , CM000678.2:g.78164241G>T | GRCh38 |
| NC_000016.9:g.78198138G>T , CM000678.1:g.78198138G>T | GRCh37 |
| NC_000016.8:g.76755639G>T | NCBI36 |
| NG_011698.1:g.69588G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.468G>T | ENSP00000485925.2:p.Arg156Ser | |
| ENST00000683286.1:n.795G>T | ||
| ENST00000683929.1:c.468G>T | ENSP00000507689.1:p.Arg156Ser | |
| ENST00000684070.1:n.732G>T | ||
| ENST00000684632.1:n.847G>T | ||
| ENST00000566780.6:c.468G>T MANE Select | ENSP00000457230.1:p.Arg156Ser | |
| ENST00000355860.7:c.468G>T | ENSP00000348119.3:p.Arg156Ser | |
| ENST00000402655.6:c.409+49087G>T | ENSP00000384238.2:n.409+49087G>T | |
| ENST00000406884.6:c.468G>T | ENSP00000384495.2:p.Arg156Ser | |
| ENST00000408984.7:c.468G>T | ENSP00000386161.3:p.Arg156Ser | |
| ENST00000539474.6:c.409+49087G>T | ENSP00000445210.2:n.409+49087G>T | |
| ENST00000561846.5:n.512G>T | ||
| ENST00000562639.5:n.156G>T | ||
| ENST00000563358.5:n.575G>T | ||
| ENST00000565791.1:n.76G>T | ||
| ENST00000566662.5:c.*86G>T | ENSP00000454331.1:n.*86G>T | |
| ENST00000566780.5:c.468G>T | ENSP00000457230.1:p.Arg156Ser | |
| ENST00000569332.5:c.*265G>T | ENSP00000454788.1:n.*265G>T | |
| ENST00000627394.2:c.*265G>T | ENSP00000485925.1:n.*265G>T | |
| NM_001291997.1:c.129G>T | NP_001278926.1:p.Arg43Ser | |
| NM_016373.3:c.468G>T | NP_057457.1:p.Arg156Ser | |
| NM_130791.3:c.468G>T | NP_570607.1:p.Arg156Ser | |
| NR_120436.1:n.948G>T | ||
| XM_006721195.2:c.468G>T | XP_006721258.1:p.Arg156Ser | |
| XM_011523100.1:c.468G>T | XP_011521402.1:p.Arg156Ser | |
| XM_011523101.1:c.468G>T | XP_011521403.1:p.Arg156Ser | |
| XM_011523102.1:c.468G>T | XP_011521404.1:p.Arg156Ser | |
| XM_011523103.1:c.468G>T | XP_011521405.1:p.Arg156Ser | |
| XM_011523104.1:c.468G>T | XP_011521406.1:p.Arg156Ser | |
| XM_011523105.1:c.468G>T | XP_011521407.1:p.Arg156Ser | |
| XM_011523101.3:c.468G>T | XP_011521403.1:p.Arg156Ser | |
| XM_011523103.3:c.468G>T | XP_011521405.1:p.Arg156Ser | |
| XM_011523104.3:c.468G>T | XP_011521406.1:p.Arg156Ser | |
| XM_011523105.3:c.468G>T | XP_011521407.1:p.Arg156Ser | |
| XM_017023278.2:c.468G>T | XP_016878767.1:p.Arg156Ser | |
| NM_016373.4:c.468G>T MANE Select | NP_057457.1:p.Arg156Ser | |
| NM_001291997.2:c.129G>T | NP_001278926.1:p.Arg43Ser | |
| NM_130791.4:c.468G>T | NP_570607.1:p.Arg156Ser | |
| NR_120436.2:n.707G>T | ||
| NM_130791.5:c.468G>T | NP_570607.1:p.Arg156Ser | |
| NR_120436.3:n.707G>T |