Linked Data
ClinVar Variation Id:
3073389
ClinVar RCV Id:
RCV004016395
MyVariant Identifiers:
chr6:g.7580222C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579989C>A , CM000668.2:g.7579989C>A | GRCh38 |
| NC_000006.11:g.7580222C>A , CM000668.1:g.7580222C>A | GRCh37 |
| NC_000006.10:g.7525221C>A | NCBI36 |
| NG_008803.1:g.43353C>A , LRG_423:g.43353C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3799C>A | ENSP00000518230.1:p.Arg1267= | |
| ENST00000379802.8:c.3799C>A MANE Select | ENSP00000369129.3:p.Arg1267= | |
| ENST00000379802.7:c.3799C>A | ENSP00000369129.3:p.Arg1267= | |
| ENST00000418664.2:c.3582+217C>A | ENSP00000396591.2:n.3582+217C>A | |
| NM_001008844.1:c.3582+217C>A | NP_001008844.1:n.3582+217C>A | |
| NM_004415.2:c.3799C>A , LRG_423t1:c.3799C>A | NP_004406.2:p.Arg1267= | |
| XM_011514323.1:c.3799C>A | XP_011512625.1:p.Arg1267= | |
| NM_001008844.2:c.3582+217C>A | NP_001008844.1:n.3582+217C>A | |
| NM_001319034.1:c.3799C>A | NP_001305963.1:p.Arg1267= | |
| NM_004415.3:c.3799C>A | NP_004406.2:p.Arg1267= | |
| NM_004415.4:c.3799C>A MANE Select | NP_004406.2:p.Arg1267= | |
| NM_001008844.3:c.3582+217C>A | NP_001008844.1:n.3582+217C>A | |
| NM_001319034.2:c.3799C>A | NP_001305963.1:p.Arg1267= |