Linked Data
ClinVar Variation Id:
2862218
ClinVar RCV Id:
RCV003752488
MyVariant Identifiers:
chr13:g.23912591C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338452C>T , CM000675.2:g.23338452C>T | GRCh38 |
| NC_000013.10:g.23912591C>T , CM000675.1:g.23912591C>T | GRCh37 |
| NC_000013.9:g.22810591C>T | NCBI36 |
| NG_012342.1:g.100251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15333G>A | ENSP00000508399.1:n.2185+15333G>A | |
| ENST00000682944.1:c.5451G>A | ENSP00000507173.1:p.Leu1817= | |
| ENST00000683210.1:c.2185+15333G>A | ENSP00000506739.1:n.2185+15333G>A | |
| ENST00000683270.1:c.5415G>A | ENSP00000507624.1:p.Leu1805= | |
| ENST00000683367.1:c.2177-8968G>A | ENSP00000507780.1:n.2177-8968G>A | |
| ENST00000683489.1:c.2291+3133G>A | ENSP00000508403.1:n.2291+3133G>A | |
| ENST00000683680.1:c.2318+3133G>A | ENSP00000507223.1:n.2318+3133G>A | |
| ENST00000684163.1:c.2203+8359G>A | ENSP00000508262.1:n.2203+8359G>A | |
| ENST00000684196.1:n.4543-8968G>A | ||
| ENST00000684325.1:c.2185+15333G>A | ENSP00000508121.1:n.2185+15333G>A | |
| ENST00000684385.1:c.2220+8359G>A | ENSP00000507855.1:n.2220+8359G>A | |
| ENST00000684497.1:c.2185+15333G>A | ENSP00000507057.1:n.2185+15333G>A | |
| ENST00000382292.9:c.5424G>A MANE Select | ENSP00000371729.3:p.Leu1808= | |
| ENST00000423156.2:c.2186-8968G>A | ENSP00000390925.2:n.2186-8968G>A | |
| ENST00000455470.6:c.2431+2993G>A | ENSP00000406565.2:n.2431+2993G>A | |
| ENST00000382292.7:c.5424G>A | ENSP00000371729.3:p.Leu1808= | |
| ENST00000382298.7:c.5424G>A | ENSP00000371735.3:p.Leu1808= | |
| ENST00000402364.1:c.3174G>A | ENSP00000385844.1:p.Leu1058= | |
| ENST00000423156.1:c.1058-8968G>A | ENSP00000390925.1:n.1058-8968G>A | |
| ENST00000455470.5:c.2129+2993G>A | ||
| NM_001278055.1:c.4983G>A | NP_001264984.1:p.Leu1661= | |
| NM_014363.5:c.5424G>A | NP_055178.3:p.Leu1808= | |
| XM_005266338.1:c.5451G>A | XP_005266395.1:p.Leu1817= | |
| XM_011535038.1:c.5475G>A | XP_011533340.1:p.Leu1825= | |
| XM_011535039.1:c.5442G>A | XP_011533341.1:p.Leu1814= | |
| XM_005266338.2:c.5451G>A | XP_005266395.1:p.Leu1817= | |
| XM_011535039.2:c.5442G>A | XP_011533341.1:p.Leu1814= | |
| XM_017020539.1:c.5415G>A | XP_016876028.1:p.Leu1805= | |
| XM_024449337.1:c.5451G>A | XP_024305105.1:p.Leu1817= | |
| NM_014363.6:c.5424G>A MANE Select | NP_055178.3:p.Leu1808= | |
| NM_001278055.2:c.4983G>A | NP_001264984.1:p.Leu1661= |