Linked Data
ClinVar Variation Id:
187892
dbSNP Id:
rs200137991
gnomAD v2:
1-11854500-C-G
gnomAD v4:
1-11794443-C-G
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11794443C>G , CM000663.2:g.11794443C>G | GRCh38 |
| NC_000001.10:g.11854500C>G , CM000663.1:g.11854500C>G | GRCh37 |
| NC_000001.9:g.11777087C>G | NCBI36 |
| NG_013351.1:g.16661G>C , LRG_726:g.16661G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.1385G>C | ENSP00000365770.1:p.Trp462Ser | |
| ENST00000376590.9:c.1262G>C MANE Select | ENSP00000365775.3:p.Trp421Ser | |
| ENST00000376592.6:c.1262G>C | ENSP00000365777.1:p.Trp421Ser | |
| ENST00000423400.7:c.1382G>C | ENSP00000398908.3:p.Trp461Ser | |
| ENST00000641407.1:c.1262G>C | ENSP00000493098.1:p.Trp421Ser | |
| ENST00000641446.1:c.1262G>C | ENSP00000493262.1:p.Trp421Ser | |
| ENST00000641747.1:c.*774G>C | ENSP00000493116.1:n.*774G>C | |
| ENST00000641759.1:n.1631G>C | ||
| ENST00000641805.1:n.1779G>C | ||
| ENST00000641820.1:c.527G>C | ENSP00000492937.1:p.Trp176Ser | |
| ENST00000376583.7:c.1385G>C | ENSP00000365767.3:p.Trp462Ser | |
| ENST00000376585.5:c.1385G>C | ENSP00000365770.1:p.Trp462Ser | |
| ENST00000376590.7:c.1262G>C | ENSP00000365775.3:p.Trp421Ser | |
| ENST00000376592.5:c.1262G>C | ENSP00000365777.1:p.Trp421Ser | |
| NM_005957.4:c.1262G>C , LRG_726t1:c.1262G>C | NP_005948.3:p.Trp421Ser | |
| XM_005263458.2:c.1385G>C | XP_005263515.1:p.Trp462Ser | |
| XM_005263460.3:c.1262G>C | XP_005263517.1:p.Trp421Ser | |
| XM_005263461.3:c.1262G>C | XP_005263518.1:p.Trp421Ser | |
| XM_005263462.3:c.1262G>C | XP_005263519.1:p.Trp421Ser | |
| XM_005263463.2:c.1016G>C | XP_005263520.1:p.Trp339Ser | |
| XM_011541495.1:c.1382G>C | XP_011539797.1:p.Trp461Ser | |
| XM_011541496.1:c.1385G>C | XP_011539798.1:p.Trp462Ser | |
| NM_001330358.1:c.1385G>C | NP_001317287.1:p.Trp462Ser | |
| XM_005263460.5:c.1262G>C | XP_005263517.1:p.Trp421Ser | |
| XM_005263462.4:c.1262G>C | XP_005263519.1:p.Trp421Ser | |
| XM_005263463.4:c.1016G>C | XP_005263520.1:p.Trp339Ser | |
| XM_011541495.3:c.1382G>C | XP_011539797.1:p.Trp461Ser | |
| XM_011541496.3:c.1385G>C | XP_011539798.1:p.Trp462Ser | |
| XM_017001328.2:c.1385G>C | XP_016856817.1:p.Trp462Ser | |
| XM_024447198.1:c.1016G>C | XP_024302966.1:p.Trp339Ser | |
| XR_002956640.1:n.2363G>C | ||
| NM_005957.5:c.1262G>C MANE Select | NP_005948.3:p.Trp421Ser | |
| NM_001330358.2:c.1385G>C | NP_001317287.1:p.Trp462Ser |