Linked Data
ClinVar Variation Id:
1755364
ClinVar RCV Id:
RCV002369332
MyVariant Identifiers:
chr1:g.241665749T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241502449T>C , CM000663.2:g.241502449T>C | GRCh38 |
| NC_000001.10:g.241665749T>C , CM000663.1:g.241665749T>C | GRCh37 |
| NC_000001.9:g.239732372T>C | NCBI36 |
| NG_012338.1:g.22306A>G , LRG_504:g.22306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1733A>G | ||
| ENST00000682162.1:c.1259A>G | ENSP00000508203.1:n.1259A>G | |
| ENST00000682567.1:n.2778A>G | ||
| ENST00000683521.1:c.1230A>G | ENSP00000506864.1:p.Pro410= | |
| ENST00000684161.1:n.2445A>G | ||
| ENST00000684483.1:c.*626A>G | ENSP00000507894.1:n.*626A>G | |
| ENST00000366560.4:c.1230A>G MANE Select | ENSP00000355518.4:p.Pro410= | |
| ENST00000366560.3:c.1230A>G | ENSP00000355518.3:p.Pro410= | |
| NM_000143.3:c.1230A>G , LRG_504t1:c.1230A>G | NP_000134.2:p.Pro410= | |
| XM_011544132.1:c.1002A>G | XP_011542434.1:p.Pro334= | |
| XM_011544132.2:c.1002A>G | XP_011542434.1:p.Pro334= | |
| NM_000143.4:c.1230A>G MANE Select | NP_000134.2:p.Pro410= |