Linked Data
ClinVar Variation Id:
1930284
ClinVar RCV Id:
RCV002618865
dbSNP Id:
rs1255993719
gnomAD v2:
1-115218262-A-G
gnomAD v4:
1-114675641-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114675641A>G , CM000663.2:g.114675641A>G | GRCh38 |
| NC_000001.10:g.115218262A>G , CM000663.1:g.115218262A>G | GRCh37 |
| NC_000001.9:g.115019785A>G | NCBI36 |
| NG_008012.1:g.24915T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1556T>C | ENSP00000358551.4:p.Phe519Ser | |
| ENST00000520113.7:c.1568T>C MANE Select | ENSP00000430075.3:p.Phe523Ser | |
| ENST00000637080.1:c.1351T>C | ENSP00000489753.1:n.1351T>C | |
| ENST00000638214.1:n.598T>C | ||
| ENST00000639077.1:n.1090T>C | ||
| ENST00000639274.1:n.198T>C | ||
| ENST00000369538.3:c.1655T>C | ENSP00000358551.3:p.Phe552Ser | |
| ENST00000520113.6:c.1667T>C | ENSP00000430075.2:p.Phe556Ser | |
| NM_000036.2:c.1667T>C | NP_000027.2:p.Phe556Ser | |
| NM_001172626.1:c.1655T>C | NP_001166097.1:p.Phe552Ser | |
| NM_000036.3:c.1568T>C MANE Select | NP_000027.3:p.Phe523Ser | |
| NM_001172626.2:c.1556T>C | NP_001166097.2:p.Phe519Ser |