Linked Data
ClinVar Variation Id:
294385
ClinVar RCV Id:
RCV000865387
dbSNP Id:
rs139340058
ExAC:
1:19209648 G / A
gnomAD v2:
1-19209648-G-A
gnomAD v3:
1-18883154-G-A
gnomAD v4:
1-18883154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18883154G>A , CM000663.2:g.18883154G>A | GRCh38 |
| NC_000001.10:g.19209648G>A , CM000663.1:g.19209648G>A | GRCh37 |
| NC_000001.9:g.19082235G>A | NCBI36 |
| NG_012283.1:g.24646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.648C>T MANE Select | ENSP00000364490.3:p.Gly216= | |
| ENST00000290597.9:c.648C>T | ENSP00000290597.5:p.Gly216= | |
| ENST00000375341.7:c.648C>T | ENSP00000364490.3:p.Gly216= | |
| ENST00000432718.1:c.600C>T | ENSP00000393209.1:p.Gly200= | |
| ENST00000454547.1:n.342C>T | ||
| ENST00000494072.3:c.1700C>T | ||
| ENST00000538309.5:c.468C>T | ENSP00000442988.1:p.Gly156= | |
| ENST00000538839.5:c.648C>T | ENSP00000446071.1:p.Gly216= | |
| NM_001161504.1:c.468C>T | NP_001154976.1:p.Gly156= | |
| NM_003748.3:c.648C>T | NP_003739.2:p.Gly216= | |
| NM_170726.2:c.648C>T | NP_733844.1:p.Gly216= | |
| XM_011542352.1:c.648C>T | XP_011540654.1:p.Gly216= | |
| XM_011542353.1:c.648C>T | XP_011540655.1:p.Gly216= | |
| XR_946786.1:n.705C>T | ||
| NM_001319218.1:c.648C>T | NP_001306147.1:p.Gly216= | |
| XR_001737510.1:n.705C>T | ||
| NM_003748.4:c.648C>T MANE Select | NP_003739.2:p.Gly216= | |
| NM_170726.3:c.648C>T | NP_733844.1:p.Gly216= | |
| NM_001161504.2:c.468C>T | NP_001154976.1:p.Gly156= | |
| NM_001319218.2:c.648C>T | NP_001306147.1:p.Gly216= |