Linked Data
ClinVar Variation Id:
292223
ClinVar RCV Id:
RCV001523551
dbSNP Id:
rs4846049
gnomAD v2:
1-11850365-T-G
gnomAD v3:
1-11790308-T-G
gnomAD v4:
1-11790308-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11790308T>G , CM000663.2:g.11790308T>G | GRCh38 |
| NC_000001.10:g.11850365T>G , CM000663.1:g.11850365T>G | GRCh37 |
| NC_000001.9:g.11772952T>G | NCBI36 |
| NG_013351.1:g.20796A>C , LRG_726:g.20796A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376585.6:c.*372A>C | ENSP00000365770.1:n.*372A>C | |
| ENST00000376590.9:c.*372A>C MANE Select | ENSP00000365775.3:n.*372A>C | |
| ENST00000376592.6:c.*372A>C | ENSP00000365777.1:n.*372A>C | |
| ENST00000423400.7:c.*372A>C | ENSP00000398908.3:n.*372A>C | |
| ENST00000641446.1:c.*802A>C | ENSP00000493262.1:n.*802A>C | |
| ENST00000641747.1:c.*1855A>C | ENSP00000493116.1:n.*1855A>C | |
| ENST00000641805.1:n.2678A>C | ||
| ENST00000376583.7:c.2466A>C | ENSP00000365767.3:n.2466A>C | |
| ENST00000376585.5:c.*372A>C | ENSP00000365770.1:n.*372A>C | |
| ENST00000376590.7:c.*372A>C | ENSP00000365775.3:n.*372A>C | |
| ENST00000376592.5:c.*372A>C | ENSP00000365777.1:n.*372A>C | |
| NM_005957.4:c.*372A>C , LRG_726t1:c.*372A>C | NP_005948.3:n.*372A>C | |
| XM_005263458.2:c.*372A>C | XP_005263515.1:n.*372A>C | |
| XM_005263460.3:c.*372A>C | XP_005263517.1:n.*372A>C | |
| XM_005263461.3:c.*372A>C | XP_005263518.1:n.*372A>C | |
| XM_005263462.3:c.*372A>C | XP_005263519.1:n.*372A>C | |
| XM_005263463.2:c.*372A>C | XP_005263520.1:n.*372A>C | |
| XM_011541495.1:c.*372A>C | XP_011539797.1:n.*372A>C | |
| XM_011541496.1:c.*232A>C | XP_011539798.1:n.*232A>C | |
| NM_001330358.1:c.*372A>C | NP_001317287.1:n.*372A>C | |
| XM_005263460.5:c.*372A>C | XP_005263517.1:n.*372A>C | |
| XM_005263462.4:c.*372A>C | XP_005263519.1:n.*372A>C | |
| XM_005263463.4:c.*372A>C | XP_005263520.1:n.*372A>C | |
| XM_011541495.3:c.*372A>C | XP_011539797.1:n.*372A>C | |
| XM_011541496.3:c.*232A>C | XP_011539798.1:n.*232A>C | |
| XM_024447198.1:c.*372A>C | XP_024302966.1:n.*372A>C | |
| NM_005957.5:c.*372A>C MANE Select | NP_005948.3:n.*372A>C | |
| NM_001330358.2:c.*372A>C | NP_001317287.1:n.*372A>C |