Linked Data
ClinVar Variation Id:
1454115
ClinVar RCV Id:
RCV001939412
dbSNP Id:
rs530269705
gnomAD v2:
13-23909193-A-C
gnomAD v4:
13-23335054-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23335054A>C , CM000675.2:g.23335054A>C | GRCh38 |
| NC_000013.10:g.23909193A>C , CM000675.1:g.23909193A>C | GRCh37 |
| NC_000013.9:g.22807193A>C | NCBI36 |
| NG_012342.1:g.103649T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+18731T>G | ENSP00000508399.1:n.2185+18731T>G | |
| ENST00000682944.1:c.8849T>G | ENSP00000507173.1:p.Leu2950Ter | |
| ENST00000683210.1:c.2185+18731T>G | ENSP00000506739.1:n.2185+18731T>G | |
| ENST00000683270.1:c.6445+2368T>G | ENSP00000507624.1:n.6445+2368T>G | |
| ENST00000683367.1:c.2177-5570T>G | ENSP00000507780.1:n.2177-5570T>G | |
| ENST00000683489.1:c.2292-5102T>G | ENSP00000508403.1:n.2292-5102T>G | |
| ENST00000683680.1:c.2319-5102T>G | ENSP00000507223.1:n.2319-5102T>G | |
| ENST00000684163.1:c.2204-5570T>G | ENSP00000508262.1:n.2204-5570T>G | |
| ENST00000684196.1:n.4543-5570T>G | ||
| ENST00000684325.1:c.2186-13380T>G | ENSP00000508121.1:n.2186-13380T>G | |
| ENST00000684385.1:c.2221-5570T>G | ENSP00000507855.1:n.2221-5570T>G | |
| ENST00000684497.1:c.2186-12410T>G | ENSP00000507057.1:n.2186-12410T>G | |
| ENST00000382292.9:c.8822T>G MANE Select | ENSP00000371729.3:p.Leu2941Ter | |
| ENST00000423156.2:c.2186-5570T>G | ENSP00000390925.2:n.2186-5570T>G | |
| ENST00000455470.6:c.2432-5570T>G | ENSP00000406565.2:n.2432-5570T>G | |
| ENST00000382292.7:c.8822T>G | ENSP00000371729.3:p.Leu2941Ter | |
| ENST00000382298.7:c.8822T>G | ENSP00000371735.3:p.Leu2941Ter | |
| ENST00000402364.1:c.6572T>G | ENSP00000385844.1:p.Leu2191Ter | |
| ENST00000423156.1:c.1058-5570T>G | ENSP00000390925.1:n.1058-5570T>G | |
| ENST00000455470.5:c.2130-5570T>G | ||
| NM_001278055.1:c.8381T>G | NP_001264984.1:p.Leu2794Ter | |
| NM_014363.5:c.8822T>G | NP_055178.3:p.Leu2941Ter | |
| XM_005266338.1:c.8849T>G | XP_005266395.1:p.Leu2950Ter | |
| XM_011535038.1:c.8873T>G | XP_011533340.1:p.Leu2958Ter | |
| XM_011535039.1:c.8840T>G | XP_011533341.1:p.Leu2947Ter | |
| XM_005266338.2:c.8849T>G | XP_005266395.1:p.Leu2950Ter | |
| XM_011535039.2:c.8840T>G | XP_011533341.1:p.Leu2947Ter | |
| XM_017020539.1:c.8813T>G | XP_016876028.1:p.Leu2938Ter | |
| XM_024449337.1:c.8849T>G | XP_024305105.1:p.Leu2950Ter | |
| NM_014363.6:c.8822T>G MANE Select | NP_055178.3:p.Leu2941Ter | |
| NM_001278055.2:c.8381T>G | NP_001264984.1:p.Leu2794Ter |