Linked Data
ClinVar Variation Id:
448223
dbSNP Id:
rs763504656
ExAC:
13:23909700 C / G
gnomAD v2:
13-23909700-C-G
gnomAD v3:
13-23335561-C-G
gnomAD v4:
13-23335561-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23335561C>G , CM000675.2:g.23335561C>G | GRCh38 |
| NC_000013.10:g.23909700C>G , CM000675.1:g.23909700C>G | GRCh37 |
| NC_000013.9:g.22807700C>G | NCBI36 |
| NG_012342.1:g.103142G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+18224G>C | ENSP00000508399.1:n.2185+18224G>C | |
| ENST00000682944.1:c.8342G>C | ENSP00000507173.1:p.Gly2781Ala | |
| ENST00000683210.1:c.2185+18224G>C | ENSP00000506739.1:n.2185+18224G>C | |
| ENST00000683270.1:c.6445+1861G>C | ENSP00000507624.1:n.6445+1861G>C | |
| ENST00000683367.1:c.2177-6077G>C | ENSP00000507780.1:n.2177-6077G>C | |
| ENST00000683489.1:c.2292-5609G>C | ENSP00000508403.1:n.2292-5609G>C | |
| ENST00000683680.1:c.2319-5609G>C | ENSP00000507223.1:n.2319-5609G>C | |
| ENST00000684163.1:c.2204-6077G>C | ENSP00000508262.1:n.2204-6077G>C | |
| ENST00000684196.1:n.4543-6077G>C | ||
| ENST00000684325.1:c.2186-13887G>C | ENSP00000508121.1:n.2186-13887G>C | |
| ENST00000684385.1:c.2221-6077G>C | ENSP00000507855.1:n.2221-6077G>C | |
| ENST00000684497.1:c.2186-12917G>C | ENSP00000507057.1:n.2186-12917G>C | |
| ENST00000382292.9:c.8315G>C MANE Select | ENSP00000371729.3:p.Gly2772Ala | |
| ENST00000423156.2:c.2186-6077G>C | ENSP00000390925.2:n.2186-6077G>C | |
| ENST00000455470.6:c.2431+5884G>C | ENSP00000406565.2:n.2431+5884G>C | |
| ENST00000382292.7:c.8315G>C | ENSP00000371729.3:p.Gly2772Ala | |
| ENST00000382298.7:c.8315G>C | ENSP00000371735.3:p.Gly2772Ala | |
| ENST00000402364.1:c.6065G>C | ENSP00000385844.1:p.Gly2022Ala | |
| ENST00000423156.1:c.1058-6077G>C | ENSP00000390925.1:n.1058-6077G>C | |
| ENST00000455470.5:c.2129+5884G>C | ||
| NM_001278055.1:c.7874G>C | NP_001264984.1:p.Gly2625Ala | |
| NM_014363.5:c.8315G>C | NP_055178.3:p.Gly2772Ala | |
| XM_005266338.1:c.8342G>C | XP_005266395.1:p.Gly2781Ala | |
| XM_011535038.1:c.8366G>C | XP_011533340.1:p.Gly2789Ala | |
| XM_011535039.1:c.8333G>C | XP_011533341.1:p.Gly2778Ala | |
| XM_005266338.2:c.8342G>C | XP_005266395.1:p.Gly2781Ala | |
| XM_011535039.2:c.8333G>C | XP_011533341.1:p.Gly2778Ala | |
| XM_017020539.1:c.8306G>C | XP_016876028.1:p.Gly2769Ala | |
| XM_024449337.1:c.8342G>C | XP_024305105.1:p.Gly2781Ala | |
| NM_014363.6:c.8315G>C MANE Select | NP_055178.3:p.Gly2772Ala | |
| NM_001278055.2:c.7874G>C | NP_001264984.1:p.Gly2625Ala |