Linked Data
ClinVar Variation Id:
187874
ClinVar RCV Id:
RCV000167594
dbSNP Id:
rs786204012
gnomAD v4:
1-11801248-A-G
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11801248A>G , CM000663.2:g.11801248A>G | GRCh38 |
| NC_000001.10:g.11861305A>G , CM000663.1:g.11861305A>G | GRCh37 |
| NC_000001.9:g.11783892A>G | NCBI36 |
| NG_008766.1:g.99A>G | |
| NG_013351.1:g.9856T>C , LRG_726:g.9856T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.388T>C | ENSP00000365669.3:p.Cys130Arg | |
| ENST00000376585.6:c.511T>C | ENSP00000365770.1:p.Cys171Arg | |
| ENST00000376590.9:c.388T>C MANE Select | ENSP00000365775.3:p.Cys130Arg | |
| ENST00000376592.6:c.388T>C | ENSP00000365777.1:p.Cys130Arg | |
| ENST00000423400.7:c.508T>C | ENSP00000398908.3:p.Cys170Arg | |
| ENST00000641407.1:c.388T>C | ENSP00000493098.1:p.Cys130Arg | |
| ENST00000641437.1:n.520T>C | ||
| ENST00000641446.1:c.388T>C | ENSP00000493262.1:p.Cys130Arg | |
| ENST00000641721.1:n.445T>C | ||
| ENST00000641747.1:c.237-926T>C | ENSP00000493116.1:n.237-926T>C | |
| ENST00000641759.1:n.523T>C | ||
| ENST00000641805.1:n.671T>C | ||
| ENST00000641909.1:n.798T>C | ||
| ENST00000376583.7:c.511T>C | ENSP00000365767.3:p.Cys171Arg | |
| ENST00000376585.5:c.511T>C | ENSP00000365770.1:p.Cys171Arg | |
| ENST00000376590.7:c.388T>C | ENSP00000365775.3:p.Cys130Arg | |
| ENST00000376592.5:c.388T>C | ENSP00000365777.1:p.Cys130Arg | |
| ENST00000418034.1:c.388T>C | ENSP00000405082.1:p.Cys130Arg | |
| NM_005957.4:c.388T>C , LRG_726t1:c.388T>C | NP_005948.3:p.Cys130Arg | |
| XM_005263458.2:c.511T>C | XP_005263515.1:p.Cys171Arg | |
| XM_005263460.3:c.388T>C | XP_005263517.1:p.Cys130Arg | |
| XM_005263461.3:c.388T>C | XP_005263518.1:p.Cys130Arg | |
| XM_005263462.3:c.388T>C | XP_005263519.1:p.Cys130Arg | |
| XM_005263463.2:c.142T>C | XP_005263520.1:p.Cys48Arg | |
| XM_011541495.1:c.508T>C | XP_011539797.1:p.Cys170Arg | |
| XM_011541496.1:c.511T>C | XP_011539798.1:p.Cys171Arg | |
| NM_001330358.1:c.511T>C | NP_001317287.1:p.Cys171Arg | |
| XM_005263460.5:c.388T>C | XP_005263517.1:p.Cys130Arg | |
| XM_005263462.4:c.388T>C | XP_005263519.1:p.Cys130Arg | |
| XM_005263463.4:c.142T>C | XP_005263520.1:p.Cys48Arg | |
| XM_011541495.3:c.508T>C | XP_011539797.1:p.Cys170Arg | |
| XM_011541496.3:c.511T>C | XP_011539798.1:p.Cys171Arg | |
| XM_017001328.2:c.511T>C | XP_016856817.1:p.Cys171Arg | |
| XM_024447198.1:c.142T>C | XP_024302966.1:p.Cys48Arg | |
| XR_002956640.1:n.1255T>C | ||
| NM_005957.5:c.388T>C MANE Select | NP_005948.3:p.Cys130Arg | |
| NM_001330358.2:c.511T>C | NP_001317287.1:p.Cys171Arg |