Linked Data
ClinVar Variation Id:
187867
dbSNP Id:
rs776483190
ExAC:
1:11863037 C / T
gnomAD v2:
1-11863037-C-T
gnomAD v3:
1-11802980-C-T
gnomAD v4:
1-11802980-C-T
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11802980C>T , CM000663.2:g.11802980C>T | GRCh38 |
| NC_000001.10:g.11863037C>T , CM000663.1:g.11863037C>T | GRCh37 |
| NC_000001.9:g.11785624C>T | NCBI36 |
| NG_008766.1:g.1831C>T | |
| NG_013351.1:g.8124G>A , LRG_726:g.8124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.137G>A | ENSP00000365669.3:p.Arg46Gln | |
| ENST00000376585.6:c.260G>A | ENSP00000365770.1:p.Arg87Gln | |
| ENST00000376590.9:c.137G>A MANE Select | ENSP00000365775.3:p.Arg46Gln | |
| ENST00000376592.6:c.137G>A | ENSP00000365777.1:p.Arg46Gln | |
| ENST00000423400.7:c.257G>A | ENSP00000398908.3:p.Arg86Gln | |
| ENST00000431243.6:n.918G>A | ||
| ENST00000641407.1:c.137G>A | ENSP00000493098.1:p.Arg46Gln | |
| ENST00000641437.1:n.269G>A | ||
| ENST00000641446.1:c.137G>A | ENSP00000493262.1:p.Arg46Gln | |
| ENST00000641721.1:n.194G>A | ||
| ENST00000641747.1:c.137G>A | ENSP00000493116.1:p.Arg46Gln | |
| ENST00000641759.1:n.272G>A | ||
| ENST00000641805.1:n.420G>A | ||
| ENST00000641909.1:n.547G>A | ||
| ENST00000642002.1:n.366G>A | ||
| ENST00000376583.7:c.260G>A | ENSP00000365767.3:p.Arg87Gln | |
| ENST00000376585.5:c.260G>A | ENSP00000365770.1:p.Arg87Gln | |
| ENST00000376590.7:c.137G>A | ENSP00000365775.3:p.Arg46Gln | |
| ENST00000376592.5:c.137G>A | ENSP00000365777.1:p.Arg46Gln | |
| ENST00000418034.1:c.137G>A | ENSP00000405082.1:p.Arg46Gln | |
| NM_005957.4:c.137G>A , LRG_726t1:c.137G>A | NP_005948.3:p.Arg46Gln | |
| XM_005263458.2:c.260G>A | XP_005263515.1:p.Arg87Gln | |
| XM_005263460.3:c.137G>A | XP_005263517.1:p.Arg46Gln | |
| XM_005263461.3:c.137G>A | XP_005263518.1:p.Arg46Gln | |
| XM_005263462.3:c.137G>A | XP_005263519.1:p.Arg46Gln | |
| XM_005263463.2:c.-127G>A | XP_005263520.1:n.-127G>A | |
| XM_011541495.1:c.257G>A | XP_011539797.1:p.Arg86Gln | |
| XM_011541496.1:c.260G>A | XP_011539798.1:p.Arg87Gln | |
| NM_001330358.1:c.260G>A | NP_001317287.1:p.Arg87Gln | |
| XM_005263460.5:c.137G>A | XP_005263517.1:p.Arg46Gln | |
| XM_005263462.4:c.137G>A | XP_005263519.1:p.Arg46Gln | |
| XM_005263463.4:c.-127G>A | XP_005263520.1:n.-127G>A | |
| XM_011541495.3:c.257G>A | XP_011539797.1:p.Arg86Gln | |
| XM_011541496.3:c.260G>A | XP_011539798.1:p.Arg87Gln | |
| XM_017001328.2:c.260G>A | XP_016856817.1:p.Arg87Gln | |
| XM_024447198.1:c.-127G>A | XP_024302966.1:n.-127G>A | |
| XR_002956640.1:n.1004G>A | ||
| NM_005957.5:c.137G>A MANE Select | NP_005948.3:p.Arg46Gln | |
| NM_001330358.2:c.260G>A | NP_001317287.1:p.Arg87Gln |