Linked Data
ClinVar Variation Id:
1119799
dbSNP Id:
rs1228594697
gnomAD v2:
1-241671921-A-G
gnomAD v3:
1-241508621-A-G
gnomAD v4:
1-241508621-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508621A>G , CM000663.2:g.241508621A>G | GRCh38 |
| NC_000001.10:g.241671921A>G , CM000663.1:g.241671921A>G | GRCh37 |
| NC_000001.9:g.239738544A>G | NCBI36 |
| NG_012338.1:g.16134T>C , LRG_504:g.16134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1223T>C | ||
| ENST00000682162.1:c.749T>C | ENSP00000508203.1:n.749T>C | |
| ENST00000682567.1:n.797T>C | ||
| ENST00000683521.1:c.720T>C | ENSP00000506864.1:p.Val240= | |
| ENST00000684161.1:n.1935T>C | ||
| ENST00000684483.1:c.*116T>C | ENSP00000507894.1:n.*116T>C | |
| ENST00000366560.4:c.720T>C MANE Select | ENSP00000355518.4:p.Val240= | |
| ENST00000366560.3:c.720T>C | ENSP00000355518.3:p.Val240= | |
| NM_000143.3:c.720T>C , LRG_504t1:c.720T>C | NP_000134.2:p.Val240= | |
| XM_011544132.1:c.492T>C | XP_011542434.1:p.Val164= | |
| XM_011544132.2:c.492T>C | XP_011542434.1:p.Val164= | |
| NM_000143.4:c.720T>C MANE Select | NP_000134.2:p.Val240= |