Linked Data
ClinVar Variation Id:
644141
ClinVar RCV Id:
RCV000797994
dbSNP Id:
rs768317695
gnomAD v4:
13-23333549-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333549T>G , CM000675.2:g.23333549T>G | GRCh38 |
| NC_000013.10:g.23907688T>G , CM000675.1:g.23907688T>G | GRCh37 |
| NC_000013.9:g.22805688T>G | NCBI36 |
| NG_012342.1:g.105154A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+20236A>C | ENSP00000508399.1:n.2185+20236A>C | |
| ENST00000682944.1:c.10354A>C | ENSP00000507173.1:p.Lys3452Gln | |
| ENST00000683210.1:c.2185+20236A>C | ENSP00000506739.1:n.2185+20236A>C | |
| ENST00000683270.1:c.6445+3873A>C | ENSP00000507624.1:n.6445+3873A>C | |
| ENST00000683367.1:c.2177-4065A>C | ENSP00000507780.1:n.2177-4065A>C | |
| ENST00000683489.1:c.2292-3597A>C | ENSP00000508403.1:n.2292-3597A>C | |
| ENST00000683680.1:c.2319-3597A>C | ENSP00000507223.1:n.2319-3597A>C | |
| ENST00000684163.1:c.2204-4065A>C | ENSP00000508262.1:n.2204-4065A>C | |
| ENST00000684196.1:n.4543-4065A>C | ||
| ENST00000684325.1:c.2186-11875A>C | ENSP00000508121.1:n.2186-11875A>C | |
| ENST00000684385.1:c.2221-4065A>C | ENSP00000507855.1:n.2221-4065A>C | |
| ENST00000684497.1:c.2186-10905A>C | ENSP00000507057.1:n.2186-10905A>C | |
| ENST00000382292.9:c.10327A>C MANE Select | ENSP00000371729.3:p.Lys3443Gln | |
| ENST00000423156.2:c.2186-4065A>C | ENSP00000390925.2:n.2186-4065A>C | |
| ENST00000455470.6:c.2432-4065A>C | ENSP00000406565.2:n.2432-4065A>C | |
| ENST00000382292.7:c.10327A>C | ENSP00000371729.3:p.Lys3443Gln | |
| ENST00000382298.7:c.10327A>C | ENSP00000371735.3:p.Lys3443Gln | |
| ENST00000402364.1:c.8077A>C | ENSP00000385844.1:p.Lys2693Gln | |
| ENST00000423156.1:c.1058-4065A>C | ENSP00000390925.1:n.1058-4065A>C | |
| ENST00000455470.5:c.2130-4065A>C | ||
| NM_001278055.1:c.9886A>C | NP_001264984.1:p.Lys3296Gln | |
| NM_014363.5:c.10327A>C | NP_055178.3:p.Lys3443Gln | |
| XM_005266338.1:c.10354A>C | XP_005266395.1:p.Lys3452Gln | |
| XM_011535038.1:c.10378A>C | XP_011533340.1:p.Lys3460Gln | |
| XM_011535039.1:c.10345A>C | XP_011533341.1:p.Lys3449Gln | |
| XM_005266338.2:c.10354A>C | XP_005266395.1:p.Lys3452Gln | |
| XM_011535039.2:c.10345A>C | XP_011533341.1:p.Lys3449Gln | |
| XM_017020539.1:c.10318A>C | XP_016876028.1:p.Lys3440Gln | |
| XM_024449337.1:c.10354A>C | XP_024305105.1:p.Lys3452Gln | |
| NM_014363.6:c.10327A>C MANE Select | NP_055178.3:p.Lys3443Gln | |
| NM_001278055.2:c.9886A>C | NP_001264984.1:p.Lys3296Gln |