Linked Data
ClinVar Variation Id:
1143839
dbSNP Id:
rs2147919423
MyVariant Identifiers:
chr1:g.241671927A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508627A>G , CM000663.2:g.241508627A>G | GRCh38 |
| NC_000001.10:g.241671927A>G , CM000663.1:g.241671927A>G | GRCh37 |
| NC_000001.9:g.239738550A>G | NCBI36 |
| NG_012338.1:g.16128T>C , LRG_504:g.16128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1217T>C | ||
| ENST00000682162.1:c.743T>C | ENSP00000508203.1:n.743T>C | |
| ENST00000682567.1:n.791T>C | ||
| ENST00000683521.1:c.714T>C | ENSP00000506864.1:p.Asp238= | |
| ENST00000684161.1:n.1929T>C | ||
| ENST00000684483.1:c.*110T>C | ENSP00000507894.1:n.*110T>C | |
| ENST00000366560.4:c.714T>C MANE Select | ENSP00000355518.4:p.Asp238= | |
| ENST00000366560.3:c.714T>C | ENSP00000355518.3:p.Asp238= | |
| NM_000143.3:c.714T>C , LRG_504t1:c.714T>C | NP_000134.2:p.Asp238= | |
| XM_011544132.1:c.486T>C | XP_011542434.1:p.Asp162= | |
| XM_011544132.2:c.486T>C | XP_011542434.1:p.Asp162= | |
| NM_000143.4:c.714T>C MANE Select | NP_000134.2:p.Asp238= |