Linked Data
ClinVar Variation Id:
3522
ClinVar RCV Id:
RCV002225067
dbSNP Id:
rs267606887
gnomAD v4:
1-11795158-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11795158T>C , CM000663.2:g.11795158T>C | GRCh38 |
| NC_000001.10:g.11855215T>C , CM000663.1:g.11855215T>C | GRCh37 |
| NC_000001.9:g.11777802T>C | NCBI36 |
| NG_013351.1:g.15946A>G , LRG_726:g.15946A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376585.6:c.1094A>G | ENSP00000365770.1:p.Asn365Ser | |
| ENST00000376590.9:c.971A>G MANE Select | ENSP00000365775.3:p.Asn324Ser | |
| ENST00000376592.6:c.971A>G | ENSP00000365777.1:p.Asn324Ser | |
| ENST00000423400.7:c.1091A>G | ENSP00000398908.3:p.Asn364Ser | |
| ENST00000641407.1:c.971A>G | ENSP00000493098.1:p.Asn324Ser | |
| ENST00000641446.1:c.971A>G | ENSP00000493262.1:p.Asn324Ser | |
| ENST00000641721.1:n.834A>G | ||
| ENST00000641747.1:c.*483A>G | ENSP00000493116.1:n.*483A>G | |
| ENST00000641759.1:n.1106A>G | ||
| ENST00000641805.1:n.1254A>G | ||
| ENST00000641820.1:c.236A>G | ENSP00000492937.1:p.Asn79Ser | |
| ENST00000376583.7:c.1094A>G | ENSP00000365767.3:p.Asn365Ser | |
| ENST00000376585.5:c.1094A>G | ENSP00000365770.1:p.Asn365Ser | |
| ENST00000376590.7:c.971A>G | ENSP00000365775.3:p.Asn324Ser | |
| ENST00000376592.5:c.971A>G | ENSP00000365777.1:p.Asn324Ser | |
| NM_005957.4:c.971A>G , LRG_726t1:c.971A>G | NP_005948.3:p.Asn324Ser | |
| XM_005263458.2:c.1094A>G | XP_005263515.1:p.Asn365Ser | |
| XM_005263460.3:c.971A>G | XP_005263517.1:p.Asn324Ser | |
| XM_005263461.3:c.971A>G | XP_005263518.1:p.Asn324Ser | |
| XM_005263462.3:c.971A>G | XP_005263519.1:p.Asn324Ser | |
| XM_005263463.2:c.725A>G | XP_005263520.1:p.Asn242Ser | |
| XM_011541495.1:c.1091A>G | XP_011539797.1:p.Asn364Ser | |
| XM_011541496.1:c.1094A>G | XP_011539798.1:p.Asn365Ser | |
| NM_001330358.1:c.1094A>G | NP_001317287.1:p.Asn365Ser | |
| XM_005263460.5:c.971A>G | XP_005263517.1:p.Asn324Ser | |
| XM_005263462.4:c.971A>G | XP_005263519.1:p.Asn324Ser | |
| XM_005263463.4:c.725A>G | XP_005263520.1:p.Asn242Ser | |
| XM_011541495.3:c.1091A>G | XP_011539797.1:p.Asn364Ser | |
| XM_011541496.3:c.1094A>G | XP_011539798.1:p.Asn365Ser | |
| XM_017001328.2:c.1094A>G | XP_016856817.1:p.Asn365Ser | |
| XM_024447198.1:c.725A>G | XP_024302966.1:p.Asn242Ser | |
| XR_002956640.1:n.1838A>G | ||
| NM_005957.5:c.971A>G MANE Select | NP_005948.3:p.Asn324Ser | |
| NM_001330358.2:c.1094A>G | NP_001317287.1:p.Asn365Ser |