Linked Data
ClinVar Variation Id:
225517
ClinVar RCV Id:
RCV000490293
dbSNP Id:
rs751181600
ExAC:
16:78198181 G / T
gnomAD v2:
16-78198181-G-T
gnomAD v4:
16-78164284-G-T
PubMed:
PMID:25411445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78164284G>T , CM000678.2:g.78164284G>T | GRCh38 |
| NC_000016.9:g.78198181G>T , CM000678.1:g.78198181G>T | GRCh37 |
| NC_000016.8:g.76755682G>T | NCBI36 |
| NG_011698.1:g.69631G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.511G>T | ENSP00000485925.2:p.Glu171Ter | |
| ENST00000683286.1:n.838G>T | ||
| ENST00000683929.1:c.511G>T | ENSP00000507689.1:p.Glu171Ter | |
| ENST00000684070.1:n.775G>T | ||
| ENST00000684632.1:n.890G>T | ||
| ENST00000566780.6:c.511G>T MANE Select | ENSP00000457230.1:p.Glu171Ter | |
| ENST00000355860.7:c.511G>T | ENSP00000348119.3:p.Glu171Ter | |
| ENST00000402655.6:c.409+49130G>T | ENSP00000384238.2:n.409+49130G>T | |
| ENST00000406884.6:c.511G>T | ENSP00000384495.2:p.Glu171Ter | |
| ENST00000408984.7:c.511G>T | ENSP00000386161.3:p.Glu171Ter | |
| ENST00000539474.6:c.409+49130G>T | ENSP00000445210.2:n.409+49130G>T | |
| ENST00000561846.5:n.555G>T | ||
| ENST00000562639.5:n.199G>T | ||
| ENST00000563358.5:n.618G>T | ||
| ENST00000565791.1:n.119G>T | ||
| ENST00000566662.5:c.*129G>T | ENSP00000454331.1:n.*129G>T | |
| ENST00000566780.5:c.511G>T | ENSP00000457230.1:p.Glu171Ter | |
| ENST00000569332.5:c.*308G>T | ENSP00000454788.1:n.*308G>T | |
| ENST00000627394.2:c.*308G>T | ENSP00000485925.1:n.*308G>T | |
| NM_001291997.1:c.172G>T | NP_001278926.1:p.Glu58Ter | |
| NM_016373.3:c.511G>T | NP_057457.1:p.Glu171Ter | |
| NM_130791.3:c.511G>T | NP_570607.1:p.Glu171Ter | |
| NR_120436.1:n.991G>T | ||
| XM_006721195.2:c.511G>T | XP_006721258.1:p.Glu171Ter | |
| XM_011523100.1:c.511G>T | XP_011521402.1:p.Glu171Ter | |
| XM_011523101.1:c.511G>T | XP_011521403.1:p.Glu171Ter | |
| XM_011523102.1:c.511G>T | XP_011521404.1:p.Glu171Ter | |
| XM_011523103.1:c.511G>T | XP_011521405.1:p.Glu171Ter | |
| XM_011523104.1:c.511G>T | XP_011521406.1:p.Glu171Ter | |
| XM_011523105.1:c.511G>T | XP_011521407.1:p.Glu171Ter | |
| XM_011523101.3:c.511G>T | XP_011521403.1:p.Glu171Ter | |
| XM_011523103.3:c.511G>T | XP_011521405.1:p.Glu171Ter | |
| XM_011523104.3:c.511G>T | XP_011521406.1:p.Glu171Ter | |
| XM_011523105.3:c.511G>T | XP_011521407.1:p.Glu171Ter | |
| XM_017023278.2:c.511G>T | XP_016878767.1:p.Glu171Ter | |
| NM_016373.4:c.511G>T MANE Select | NP_057457.1:p.Glu171Ter | |
| NM_001291997.2:c.172G>T | NP_001278926.1:p.Glu58Ter | |
| NM_130791.4:c.511G>T | NP_570607.1:p.Glu171Ter | |
| NR_120436.2:n.750G>T | ||
| NM_130791.5:c.511G>T | NP_570607.1:p.Glu171Ter | |
| NR_120436.3:n.750G>T |