Linked Data
ClinVar Variation Id:
5519
ClinVar RCV Id:
RCV000005854
dbSNP Id:
rs137853018
gnomAD v2:
13-23908273-A-G
gnomAD v4:
13-23334134-A-G
PubMed:
PMID:14718708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334134A>G , CM000675.2:g.23334134A>G | GRCh38 |
| NC_000013.10:g.23908273A>G , CM000675.1:g.23908273A>G | GRCh37 |
| NC_000013.9:g.22806273A>G | NCBI36 |
| NG_012342.1:g.104569T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19651T>C | ENSP00000508399.1:n.2185+19651T>C | |
| ENST00000682944.1:c.9769T>C | ENSP00000507173.1:p.Trp3257Arg | |
| ENST00000683210.1:c.2185+19651T>C | ENSP00000506739.1:n.2185+19651T>C | |
| ENST00000683270.1:c.6445+3288T>C | ENSP00000507624.1:n.6445+3288T>C | |
| ENST00000683367.1:c.2177-4650T>C | ENSP00000507780.1:n.2177-4650T>C | |
| ENST00000683489.1:c.2292-4182T>C | ENSP00000508403.1:n.2292-4182T>C | |
| ENST00000683680.1:c.2319-4182T>C | ENSP00000507223.1:n.2319-4182T>C | |
| ENST00000684163.1:c.2204-4650T>C | ENSP00000508262.1:n.2204-4650T>C | |
| ENST00000684196.1:n.4543-4650T>C | ||
| ENST00000684325.1:c.2186-12460T>C | ENSP00000508121.1:n.2186-12460T>C | |
| ENST00000684385.1:c.2221-4650T>C | ENSP00000507855.1:n.2221-4650T>C | |
| ENST00000684497.1:c.2186-11490T>C | ENSP00000507057.1:n.2186-11490T>C | |
| ENST00000382292.9:c.9742T>C MANE Select | ENSP00000371729.3:p.Trp3248Arg | |
| ENST00000423156.2:c.2186-4650T>C | ENSP00000390925.2:n.2186-4650T>C | |
| ENST00000455470.6:c.2432-4650T>C | ENSP00000406565.2:n.2432-4650T>C | |
| ENST00000382292.7:c.9742T>C | ENSP00000371729.3:p.Trp3248Arg | |
| ENST00000382298.7:c.9742T>C | ENSP00000371735.3:p.Trp3248Arg | |
| ENST00000402364.1:c.7492T>C | ENSP00000385844.1:p.Trp2498Arg | |
| ENST00000423156.1:c.1058-4650T>C | ENSP00000390925.1:n.1058-4650T>C | |
| ENST00000455470.5:c.2130-4650T>C | ||
| NM_001278055.1:c.9301T>C | NP_001264984.1:p.Trp3101Arg | |
| NM_014363.5:c.9742T>C | NP_055178.3:p.Trp3248Arg | |
| XM_005266338.1:c.9769T>C | XP_005266395.1:p.Trp3257Arg | |
| XM_011535038.1:c.9793T>C | XP_011533340.1:p.Trp3265Arg | |
| XM_011535039.1:c.9760T>C | XP_011533341.1:p.Trp3254Arg | |
| XM_005266338.2:c.9769T>C | XP_005266395.1:p.Trp3257Arg | |
| XM_011535039.2:c.9760T>C | XP_011533341.1:p.Trp3254Arg | |
| XM_017020539.1:c.9733T>C | XP_016876028.1:p.Trp3245Arg | |
| XM_024449337.1:c.9769T>C | XP_024305105.1:p.Trp3257Arg | |
| NM_014363.6:c.9742T>C MANE Select | NP_055178.3:p.Trp3248Arg | |
| NM_001278055.2:c.9301T>C | NP_001264984.1:p.Trp3101Arg |