Linked Data
ClinVar Variation Id:
448226
dbSNP Id:
rs759112797
ExAC:
13:23909044 G / A
gnomAD v2:
13-23909044-G-A
gnomAD v3:
13-23334905-G-A
gnomAD v4:
13-23334905-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334905G>A , CM000675.2:g.23334905G>A | GRCh38 |
| NC_000013.10:g.23909044G>A , CM000675.1:g.23909044G>A | GRCh37 |
| NC_000013.9:g.22807044G>A | NCBI36 |
| NG_012342.1:g.103798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+18880C>T | ENSP00000508399.1:n.2185+18880C>T | |
| ENST00000682944.1:c.8998C>T | ENSP00000507173.1:p.Arg3000Cys | |
| ENST00000683210.1:c.2185+18880C>T | ENSP00000506739.1:n.2185+18880C>T | |
| ENST00000683270.1:c.6445+2517C>T | ENSP00000507624.1:n.6445+2517C>T | |
| ENST00000683367.1:c.2177-5421C>T | ENSP00000507780.1:n.2177-5421C>T | |
| ENST00000683489.1:c.2292-4953C>T | ENSP00000508403.1:n.2292-4953C>T | |
| ENST00000683680.1:c.2319-4953C>T | ENSP00000507223.1:n.2319-4953C>T | |
| ENST00000684163.1:c.2204-5421C>T | ENSP00000508262.1:n.2204-5421C>T | |
| ENST00000684196.1:n.4543-5421C>T | ||
| ENST00000684325.1:c.2186-13231C>T | ENSP00000508121.1:n.2186-13231C>T | |
| ENST00000684385.1:c.2221-5421C>T | ENSP00000507855.1:n.2221-5421C>T | |
| ENST00000684497.1:c.2186-12261C>T | ENSP00000507057.1:n.2186-12261C>T | |
| ENST00000382292.9:c.8971C>T MANE Select | ENSP00000371729.3:p.Arg2991Cys | |
| ENST00000423156.2:c.2186-5421C>T | ENSP00000390925.2:n.2186-5421C>T | |
| ENST00000455470.6:c.2432-5421C>T | ENSP00000406565.2:n.2432-5421C>T | |
| ENST00000382292.7:c.8971C>T | ENSP00000371729.3:p.Arg2991Cys | |
| ENST00000382298.7:c.8971C>T | ENSP00000371735.3:p.Arg2991Cys | |
| ENST00000402364.1:c.6721C>T | ENSP00000385844.1:p.Arg2241Cys | |
| ENST00000423156.1:c.1058-5421C>T | ENSP00000390925.1:n.1058-5421C>T | |
| ENST00000455470.5:c.2130-5421C>T | ||
| NM_001278055.1:c.8530C>T | NP_001264984.1:p.Arg2844Cys | |
| NM_014363.5:c.8971C>T | NP_055178.3:p.Arg2991Cys | |
| XM_005266338.1:c.8998C>T | XP_005266395.1:p.Arg3000Cys | |
| XM_011535038.1:c.9022C>T | XP_011533340.1:p.Arg3008Cys | |
| XM_011535039.1:c.8989C>T | XP_011533341.1:p.Arg2997Cys | |
| XM_005266338.2:c.8998C>T | XP_005266395.1:p.Arg3000Cys | |
| XM_011535039.2:c.8989C>T | XP_011533341.1:p.Arg2997Cys | |
| XM_017020539.1:c.8962C>T | XP_016876028.1:p.Arg2988Cys | |
| XM_024449337.1:c.8998C>T | XP_024305105.1:p.Arg3000Cys | |
| NM_014363.6:c.8971C>T MANE Select | NP_055178.3:p.Arg2991Cys | |
| NM_001278055.2:c.8530C>T | NP_001264984.1:p.Arg2844Cys |