Linked Data
ClinVar Variation Id:
5517
dbSNP Id:
rs137853017
gnomAD v4:
13-23338040-A-G
PubMed:
PMID:12873855
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338040A>G , CM000675.2:g.23338040A>G | GRCh38 |
| NC_000013.10:g.23912179A>G , CM000675.1:g.23912179A>G | GRCh37 |
| NC_000013.9:g.22810179A>G | NCBI36 |
| NG_012342.1:g.100663T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15745T>C | ENSP00000508399.1:n.2185+15745T>C | |
| ENST00000682944.1:c.5863T>C | ENSP00000507173.1:p.Trp1955Arg | |
| ENST00000683210.1:c.2185+15745T>C | ENSP00000506739.1:n.2185+15745T>C | |
| ENST00000683270.1:c.5827T>C | ENSP00000507624.1:p.Trp1943Arg | |
| ENST00000683367.1:c.2177-8556T>C | ENSP00000507780.1:n.2177-8556T>C | |
| ENST00000683489.1:c.2291+3545T>C | ENSP00000508403.1:n.2291+3545T>C | |
| ENST00000683680.1:c.2318+3545T>C | ENSP00000507223.1:n.2318+3545T>C | |
| ENST00000684163.1:c.2204-8556T>C | ENSP00000508262.1:n.2204-8556T>C | |
| ENST00000684196.1:n.4543-8556T>C | ||
| ENST00000684325.1:c.2185+15745T>C | ENSP00000508121.1:n.2185+15745T>C | |
| ENST00000684385.1:c.2221-8556T>C | ENSP00000507855.1:n.2221-8556T>C | |
| ENST00000684497.1:c.2186-15396T>C | ENSP00000507057.1:n.2186-15396T>C | |
| ENST00000382292.9:c.5836T>C MANE Select | ENSP00000371729.3:p.Trp1946Arg | |
| ENST00000423156.2:c.2186-8556T>C | ENSP00000390925.2:n.2186-8556T>C | |
| ENST00000455470.6:c.2431+3405T>C | ENSP00000406565.2:n.2431+3405T>C | |
| ENST00000382292.7:c.5836T>C | ENSP00000371729.3:p.Trp1946Arg | |
| ENST00000382298.7:c.5836T>C | ENSP00000371735.3:p.Trp1946Arg | |
| ENST00000402364.1:c.3586T>C | ENSP00000385844.1:p.Trp1196Arg | |
| ENST00000423156.1:c.1058-8556T>C | ENSP00000390925.1:n.1058-8556T>C | |
| ENST00000455470.5:c.2129+3405T>C | ||
| NM_001278055.1:c.5395T>C | NP_001264984.1:p.Trp1799Arg | |
| NM_014363.5:c.5836T>C | NP_055178.3:p.Trp1946Arg | |
| XM_005266338.1:c.5863T>C | XP_005266395.1:p.Trp1955Arg | |
| XM_011535038.1:c.5887T>C | XP_011533340.1:p.Trp1963Arg | |
| XM_011535039.1:c.5854T>C | XP_011533341.1:p.Trp1952Arg | |
| XM_005266338.2:c.5863T>C | XP_005266395.1:p.Trp1955Arg | |
| XM_011535039.2:c.5854T>C | XP_011533341.1:p.Trp1952Arg | |
| XM_017020539.1:c.5827T>C | XP_016876028.1:p.Trp1943Arg | |
| XM_024449337.1:c.5863T>C | XP_024305105.1:p.Trp1955Arg | |
| NM_014363.6:c.5836T>C MANE Select | NP_055178.3:p.Trp1946Arg | |
| NM_001278055.2:c.5395T>C | NP_001264984.1:p.Trp1799Arg |