Linked Data
ClinVar Variation Id:
5514
ClinVar RCV Id:
RCV000005849
dbSNP Id:
rs137853016
PubMed:
PMID:12873855
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23331656C>G , CM000675.2:g.23331656C>G | GRCh38 |
| NC_000013.10:g.23905795C>G , CM000675.1:g.23905795C>G | GRCh37 |
| NC_000013.9:g.22803795C>G | NCBI36 |
| NG_012342.1:g.107047G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-19541G>C | ENSP00000508399.1:n.2186-19541G>C | |
| ENST00000682944.1:c.12247G>C | ENSP00000507173.1:p.Ala4083Pro | |
| ENST00000683210.1:c.2185+22129G>C | ENSP00000506739.1:n.2185+22129G>C | |
| ENST00000683270.1:c.6446-2172G>C | ENSP00000507624.1:n.6446-2172G>C | |
| ENST00000683367.1:c.2177-2172G>C | ENSP00000507780.1:n.2177-2172G>C | |
| ENST00000683489.1:c.2292-1704G>C | ENSP00000508403.1:n.2292-1704G>C | |
| ENST00000683680.1:c.2319-1704G>C | ENSP00000507223.1:n.2319-1704G>C | |
| ENST00000684163.1:c.2204-2172G>C | ENSP00000508262.1:n.2204-2172G>C | |
| ENST00000684196.1:n.4543-2172G>C | ||
| ENST00000684325.1:c.2186-9982G>C | ENSP00000508121.1:n.2186-9982G>C | |
| ENST00000684385.1:c.2221-2172G>C | ENSP00000507855.1:n.2221-2172G>C | |
| ENST00000684497.1:c.2186-9012G>C | ENSP00000507057.1:n.2186-9012G>C | |
| ENST00000382292.9:c.12220G>C MANE Select | ENSP00000371729.3:p.Ala4074Pro | |
| ENST00000423156.2:c.2186-2172G>C | ENSP00000390925.2:n.2186-2172G>C | |
| ENST00000455470.6:c.2432-2172G>C | ENSP00000406565.2:n.2432-2172G>C | |
| ENST00000382292.7:c.12220G>C | ENSP00000371729.3:p.Ala4074Pro | |
| ENST00000382298.7:c.12220G>C | ENSP00000371735.3:p.Ala4074Pro | |
| ENST00000402364.1:c.9970G>C | ENSP00000385844.1:p.Ala3324Pro | |
| ENST00000423156.1:c.1058-2172G>C | ENSP00000390925.1:n.1058-2172G>C | |
| ENST00000455470.5:c.2130-2172G>C | ||
| NM_001278055.1:c.11779G>C | NP_001264984.1:p.Ala3927Pro | |
| NM_014363.5:c.12220G>C | NP_055178.3:p.Ala4074Pro | |
| XM_005266338.1:c.12247G>C | XP_005266395.1:p.Ala4083Pro | |
| XM_011535038.1:c.12271G>C | XP_011533340.1:p.Ala4091Pro | |
| XM_011535039.1:c.12238G>C | XP_011533341.1:p.Ala4080Pro | |
| XM_005266338.2:c.12247G>C | XP_005266395.1:p.Ala4083Pro | |
| XM_011535039.2:c.12238G>C | XP_011533341.1:p.Ala4080Pro | |
| XM_017020539.1:c.12211G>C | XP_016876028.1:p.Ala4071Pro | |
| XM_024449337.1:c.12247G>C | XP_024305105.1:p.Ala4083Pro | |
| NM_014363.6:c.12220G>C MANE Select | NP_055178.3:p.Ala4074Pro | |
| NM_001278055.2:c.11779G>C | NP_001264984.1:p.Ala3927Pro |