Linked Data
ClinVar Variation Id:
187885
ClinVar RCV Id:
RCV000167605
dbSNP Id:
rs786204020
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796205C>A , CM000663.2:g.11796205C>A | GRCh38 |
| NC_000001.10:g.11856262C>A , CM000663.1:g.11856262C>A | GRCh37 |
| NC_000001.9:g.11778849C>A | NCBI36 |
| NG_013351.1:g.14899G>T , LRG_726:g.14899G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.903+1G>T | ENSP00000365770.1:n.903+1G>T | |
| ENST00000376590.9:c.780+1G>T MANE Select | ENSP00000365775.3:n.780+1G>T | |
| ENST00000376592.6:c.780+1G>T | ENSP00000365777.1:n.780+1G>T | |
| ENST00000423400.7:c.900+1G>T | ENSP00000398908.3:n.900+1G>T | |
| ENST00000641407.1:c.780+1G>T | ENSP00000493098.1:n.780+1G>T | |
| ENST00000641446.1:c.780+1G>T | ENSP00000493262.1:n.780+1G>T | |
| ENST00000641721.1:n.644-857G>T | ||
| ENST00000641747.1:c.*292+1G>T | ENSP00000493116.1:n.*292+1G>T | |
| ENST00000641759.1:n.915+1G>T | ||
| ENST00000641805.1:n.1063+1G>T | ||
| ENST00000641820.1:c.45+1G>T | ENSP00000492937.1:n.45+1G>T | |
| ENST00000376583.7:c.903+1G>T | ENSP00000365767.3:n.903+1G>T | |
| ENST00000376585.5:c.903+1G>T | ENSP00000365770.1:n.903+1G>T | |
| ENST00000376590.7:c.780+1G>T | ENSP00000365775.3:n.780+1G>T | |
| ENST00000376592.5:c.780+1G>T | ENSP00000365777.1:n.780+1G>T | |
| NM_005957.4:c.780+1G>T , LRG_726t1:c.780+1G>T | NP_005948.3:n.780+1G>T | |
| XM_005263458.2:c.903+1G>T | XP_005263515.1:n.903+1G>T | |
| XM_005263460.3:c.780+1G>T | XP_005263517.1:n.780+1G>T | |
| XM_005263461.3:c.780+1G>T | XP_005263518.1:n.780+1G>T | |
| XM_005263462.3:c.780+1G>T | XP_005263519.1:n.780+1G>T | |
| XM_005263463.2:c.534+1G>T | XP_005263520.1:n.534+1G>T | |
| XM_011541495.1:c.900+1G>T | XP_011539797.1:n.900+1G>T | |
| XM_011541496.1:c.903+1G>T | XP_011539798.1:n.903+1G>T | |
| NM_001330358.1:c.903+1G>T | NP_001317287.1:n.903+1G>T | |
| XM_005263460.5:c.780+1G>T | XP_005263517.1:n.780+1G>T | |
| XM_005263462.4:c.780+1G>T | XP_005263519.1:n.780+1G>T | |
| XM_005263463.4:c.534+1G>T | XP_005263520.1:n.534+1G>T | |
| XM_011541495.3:c.900+1G>T | XP_011539797.1:n.900+1G>T | |
| XM_011541496.3:c.903+1G>T | XP_011539798.1:n.903+1G>T | |
| XM_017001328.2:c.903+1G>T | XP_016856817.1:n.903+1G>T | |
| XM_024447198.1:c.534+1G>T | XP_024302966.1:n.534+1G>T | |
| XR_002956640.1:n.1647+1G>T | ||
| NM_005957.5:c.780+1G>T MANE Select | NP_005948.3:n.780+1G>T | |
| NM_001330358.2:c.903+1G>T | NP_001317287.1:n.903+1G>T |