Linked Data
ClinVar Variation Id:
2837128
ClinVar RCV Id:
RCV003752100
MyVariant Identifiers:
chr13:g.23908439T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334300T>C , CM000675.2:g.23334300T>C | GRCh38 |
| NC_000013.10:g.23908439T>C , CM000675.1:g.23908439T>C | GRCh37 |
| NC_000013.9:g.22806439T>C | NCBI36 |
| NG_012342.1:g.104403A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19485A>G | ENSP00000508399.1:n.2185+19485A>G | |
| ENST00000682944.1:c.9603A>G | ENSP00000507173.1:p.Leu3201= | |
| ENST00000683210.1:c.2185+19485A>G | ENSP00000506739.1:n.2185+19485A>G | |
| ENST00000683270.1:c.6445+3122A>G | ENSP00000507624.1:n.6445+3122A>G | |
| ENST00000683367.1:c.2177-4816A>G | ENSP00000507780.1:n.2177-4816A>G | |
| ENST00000683489.1:c.2292-4348A>G | ENSP00000508403.1:n.2292-4348A>G | |
| ENST00000683680.1:c.2319-4348A>G | ENSP00000507223.1:n.2319-4348A>G | |
| ENST00000684163.1:c.2204-4816A>G | ENSP00000508262.1:n.2204-4816A>G | |
| ENST00000684196.1:n.4543-4816A>G | ||
| ENST00000684325.1:c.2186-12626A>G | ENSP00000508121.1:n.2186-12626A>G | |
| ENST00000684385.1:c.2221-4816A>G | ENSP00000507855.1:n.2221-4816A>G | |
| ENST00000684497.1:c.2186-11656A>G | ENSP00000507057.1:n.2186-11656A>G | |
| ENST00000382292.9:c.9576A>G MANE Select | ENSP00000371729.3:p.Leu3192= | |
| ENST00000423156.2:c.2186-4816A>G | ENSP00000390925.2:n.2186-4816A>G | |
| ENST00000455470.6:c.2432-4816A>G | ENSP00000406565.2:n.2432-4816A>G | |
| ENST00000382292.7:c.9576A>G | ENSP00000371729.3:p.Leu3192= | |
| ENST00000382298.7:c.9576A>G | ENSP00000371735.3:p.Leu3192= | |
| ENST00000402364.1:c.7326A>G | ENSP00000385844.1:p.Leu2442= | |
| ENST00000423156.1:c.1058-4816A>G | ENSP00000390925.1:n.1058-4816A>G | |
| ENST00000455470.5:c.2130-4816A>G | ||
| NM_001278055.1:c.9135A>G | NP_001264984.1:p.Leu3045= | |
| NM_014363.5:c.9576A>G | NP_055178.3:p.Leu3192= | |
| XM_005266338.1:c.9603A>G | XP_005266395.1:p.Leu3201= | |
| XM_011535038.1:c.9627A>G | XP_011533340.1:p.Leu3209= | |
| XM_011535039.1:c.9594A>G | XP_011533341.1:p.Leu3198= | |
| XM_005266338.2:c.9603A>G | XP_005266395.1:p.Leu3201= | |
| XM_011535039.2:c.9594A>G | XP_011533341.1:p.Leu3198= | |
| XM_017020539.1:c.9567A>G | XP_016876028.1:p.Leu3189= | |
| XM_024449337.1:c.9603A>G | XP_024305105.1:p.Leu3201= | |
| NM_014363.6:c.9576A>G MANE Select | NP_055178.3:p.Leu3192= | |
| NM_001278055.2:c.9135A>G | NP_001264984.1:p.Leu3045= |