Linked Data
dbSNP Id:
rs745583740
ExAC:
17:75398381 G / A
gnomAD v2:
17-75398381-G-A
gnomAD v4:
17-77402299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402299G>A , CM000679.2:g.77402299G>A | GRCh38 |
| NC_000017.10:g.75398381G>A , CM000679.1:g.75398381G>A | GRCh37 |
| NC_000017.9:g.72909976G>A | NCBI36 |
| NG_011683.1:g.125890G>A | |
| NG_011683.2:g.125890G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329047.13:c.263G>A MANE Plus Clinical | ENSP00000329161.8:p.Arg88Gln | |
| ENST00000427177.6:c.317G>A MANE Select | ENSP00000391249.1:p.Arg106Gln | |
| ENST00000588690.6:c.-176G>A | ENSP00000468668.1:n.-176G>A | |
| ENST00000590294.6:n.366G>A | ||
| ENST00000329047.12:c.263G>A | ENSP00000329161.8:p.Arg88Gln | |
| ENST00000423034.6:c.296G>A | ENSP00000405877.1:p.Arg99Gln | |
| ENST00000427177.5:c.317G>A | ENSP00000391249.1:p.Arg106Gln | |
| ENST00000427674.6:c.-176G>A | ENSP00000403194.1:n.-176G>A | |
| ENST00000431235.6:c.-176G>A | ENSP00000406987.2:n.-176G>A | |
| ENST00000449803.6:c.-176G>A | ENSP00000400181.2:n.-176G>A | |
| ENST00000586812.1:n.376G>A | ||
| ENST00000587514.1:n.446G>A | ||
| ENST00000588575.1:c.37-38G>A | ENSP00000468090.1:n.37-38G>A | |
| ENST00000588690.5:c.-176G>A | ENSP00000468668.1:n.-176G>A | |
| ENST00000589070.1:c.272G>A | ENSP00000465332.1:p.Arg91Gln | |
| ENST00000589140.1:c.272G>A | ENSP00000466997.1:p.Arg91Gln | |
| ENST00000590059.5:c.25-257G>A | ENSP00000466164.1:n.25-257G>A | |
| ENST00000590294.5:c.263G>A | ENSP00000465464.1:p.Arg88Gln | |
| ENST00000590576.5:c.*317G>A | ENSP00000465600.1:n.*317G>A | |
| ENST00000590586.1:n.422G>A | ||
| ENST00000590595.1:c.37-38G>A | ENSP00000465026.1:n.37-38G>A | |
| ENST00000590825.1:c.-176G>A | ENSP00000468244.1:n.-176G>A | |
| ENST00000591198.5:c.260G>A | ENSP00000468406.1:p.Arg87Gln | |
| ENST00000591833.5:c.*312G>A | ENSP00000466684.1:n.*312G>A | |
| ENST00000591934.1:c.338G>A | ENSP00000468504.1:p.Arg113Gln | |
| ENST00000592098.1:n.347G>A | ||
| ENST00000592420.1:c.-257G>A | ENSP00000467051.1:n.-257G>A | |
| NM_001113491.1:c.317G>A | NP_001106963.1:p.Arg106Gln | |
| NM_001113492.1:c.-176G>A | NP_001106964.1:n.-176G>A | |
| NM_001113493.1:c.296G>A | NP_001106965.1:p.Arg99Gln | |
| NM_001113494.1:c.-176G>A | NP_001106966.1:n.-176G>A | |
| NM_001293695.1:c.260G>A | NP_001280624.1:p.Arg87Gln | |
| NM_006640.4:c.263G>A | NP_006631.2:p.Arg88Gln | |
| XM_006721643.2:c.-176G>A | XP_006721706.1:n.-176G>A | |
| XM_011524204.1:c.410G>A | XP_011522506.1:p.Arg137Gln | |
| XM_011524205.1:c.407G>A | XP_011522507.1:p.Arg136Gln | |
| XM_011524206.1:c.272G>A | XP_011522508.1:p.Arg91Gln | |
| XM_011524207.1:c.-176G>A | XP_011522509.1:n.-176G>A | |
| NM_001113491.2:c.317G>A MANE Select | NP_001106963.1:p.Arg106Gln | |
| NM_001113493.2:c.296G>A | NP_001106965.1:p.Arg99Gln | |
| NM_001293695.2:c.260G>A | NP_001280624.1:p.Arg87Gln | |
| NM_001113492.2:c.-176G>A | NP_001106964.1:n.-176G>A | |
| NM_006640.5:c.263G>A MANE Plus Clinical | NP_006631.2:p.Arg88Gln |