Linked Data
ClinVar Variation Id:
500682
ClinVar RCV Id:
RCV000596852
dbSNP Id:
rs1261408099
gnomAD v2:
13-23906116-G-C
gnomAD v3:
13-23331977-G-C
gnomAD v4:
13-23331977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23331977G>C , CM000675.2:g.23331977G>C | GRCh38 |
| NC_000013.10:g.23906116G>C , CM000675.1:g.23906116G>C | GRCh37 |
| NC_000013.9:g.22804116G>C | NCBI36 |
| NG_012342.1:g.106726C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2186-19862C>G | ENSP00000508399.1:n.2186-19862C>G | |
| ENST00000682944.1:c.11926C>G | ENSP00000507173.1:p.Gln3976Glu | |
| ENST00000683210.1:c.2185+21808C>G | ENSP00000506739.1:n.2185+21808C>G | |
| ENST00000683270.1:c.6446-2493C>G | ENSP00000507624.1:n.6446-2493C>G | |
| ENST00000683367.1:c.2177-2493C>G | ENSP00000507780.1:n.2177-2493C>G | |
| ENST00000683489.1:c.2292-2025C>G | ENSP00000508403.1:n.2292-2025C>G | |
| ENST00000683680.1:c.2319-2025C>G | ENSP00000507223.1:n.2319-2025C>G | |
| ENST00000684163.1:c.2204-2493C>G | ENSP00000508262.1:n.2204-2493C>G | |
| ENST00000684196.1:n.4543-2493C>G | ||
| ENST00000684325.1:c.2186-10303C>G | ENSP00000508121.1:n.2186-10303C>G | |
| ENST00000684385.1:c.2221-2493C>G | ENSP00000507855.1:n.2221-2493C>G | |
| ENST00000684497.1:c.2186-9333C>G | ENSP00000507057.1:n.2186-9333C>G | |
| ENST00000382292.9:c.11899C>G MANE Select | ENSP00000371729.3:p.Gln3967Glu | |
| ENST00000423156.2:c.2186-2493C>G | ENSP00000390925.2:n.2186-2493C>G | |
| ENST00000455470.6:c.2432-2493C>G | ENSP00000406565.2:n.2432-2493C>G | |
| ENST00000382292.7:c.11899C>G | ENSP00000371729.3:p.Gln3967Glu | |
| ENST00000382298.7:c.11899C>G | ENSP00000371735.3:p.Gln3967Glu | |
| ENST00000402364.1:c.9649C>G | ENSP00000385844.1:p.Gln3217Glu | |
| ENST00000423156.1:c.1058-2493C>G | ENSP00000390925.1:n.1058-2493C>G | |
| ENST00000455470.5:c.2130-2493C>G | ||
| NM_001278055.1:c.11458C>G | NP_001264984.1:p.Gln3820Glu | |
| NM_014363.5:c.11899C>G | NP_055178.3:p.Gln3967Glu | |
| XM_005266338.1:c.11926C>G | XP_005266395.1:p.Gln3976Glu | |
| XM_011535038.1:c.11950C>G | XP_011533340.1:p.Gln3984Glu | |
| XM_011535039.1:c.11917C>G | XP_011533341.1:p.Gln3973Glu | |
| XM_005266338.2:c.11926C>G | XP_005266395.1:p.Gln3976Glu | |
| XM_011535039.2:c.11917C>G | XP_011533341.1:p.Gln3973Glu | |
| XM_017020539.1:c.11890C>G | XP_016876028.1:p.Gln3964Glu | |
| XM_024449337.1:c.11926C>G | XP_024305105.1:p.Gln3976Glu | |
| NM_014363.6:c.11899C>G MANE Select | NP_055178.3:p.Gln3967Glu | |
| NM_001278055.2:c.11458C>G | NP_001264984.1:p.Gln3820Glu |