Linked Data
ClinVar Variation Id:
7129
ClinVar RCV Id:
RCV000007549
RCV000271658
RCV000780159
RCV000763161
RCV001004509
RCV002228015
RCV002255994
RCV003473013
dbSNP Id:
rs77010898
ExAC:
7:117282620 G / A
gnomAD v2:
7-117282620-G-A
gnomAD v3:
7-117642566-G-A
gnomAD v4:
7-117642566-G-A
MyVariant Identifiers:
chr7:g.117282620G>A (hg19)
chr7:g.117282620_117282624delinsAAGGA (hg19)
chr7:g.117642566G>A (hg38)
chr7:g.117642566_117642570delinsAAGGA (hg38)
PubMed:
PMID:1370365
PMID:1721624
PMID:2210768
PMID:2236053
PMID:2378364
PMID:3110945
PMID:7520798
PMID:11280952
PMID:11737931
PMID:12833420
PMID:12940920
PMID:14685937
PMID:15221447
PMID:15482777
PMID:15619636
PMID:15994263
PMID:16840743
PMID:18463704
PMID:18639722
PMID:18722008
PMID:20622033
PMID:21152102
PMID:21233271
PMID:21416780
PMID:21658649
PMID:22992668
PMID:23457292
PMID:23951356
PMID:23974870
PMID:24836205
PMID:26631874
PMID:28129809
PMID:28129811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642566G>A , CM000669.2:g.117642566G>A | GRCh38 |
| NC_000007.13:g.117282620G>A , CM000669.1:g.117282620G>A | GRCh37 |
| NC_000007.12:g.117069856G>A | NCBI36 |
| NG_016465.4:g.181783G>A , LRG_663:g.181783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*55G>A | ENSP00000497673.2:n.*55G>A | |
| ENST00000647978.2:c.*3560G>A | ENSP00000497658.1:n.*3560G>A | |
| ENST00000649781.2:c.3663G>A | ENSP00000497203.1:p.Trp1221Ter | |
| ENST00000685018.2:c.3846G>A | ENSP00000510194.2:p.Trp1282Ter | |
| ENST00000687278.2:c.*499G>A | ENSP00000509593.2:n.*499G>A | |
| ENST00000699585.1:c.*55G>A | ENSP00000514456.1:n.*55G>A | |
| ENST00000699598.1:c.3846G>A | ENSP00000514467.1:p.Trp1282Ter | |
| ENST00000699599.1:c.3846G>A | ENSP00000514468.1:p.Trp1282Ter | |
| ENST00000699600.1:c.*507G>A | ENSP00000514469.1:n.*507G>A | |
| ENST00000699601.1:c.*2221G>A | ENSP00000514470.1:n.*2221G>A | |
| ENST00000699602.1:c.3840G>A | ENSP00000514471.1:p.Trp1280Ter | |
| ENST00000699604.1:c.*3670G>A | ENSP00000514472.1:n.*3670G>A | |
| ENST00000699605.1:c.3420G>A | ENSP00000514473.1:p.Trp1140Ter | |
| ENST00000685018.1:c.594G>A | ENSP00000510194.1:p.Trp198Ter | |
| ENST00000687278.1:c.1633G>A | ENSP00000509593.1:n.1633G>A | |
| ENST00000689011.1:c.428G>A | ||
| ENST00000003084.11:c.3846G>A MANE Select | ENSP00000003084.6:p.Trp1282Ter | |
| ENST00000647720.1:c.1296G>A | ||
| ENST00000649781.1:c.3663G>A | ENSP00000497203.1:p.Trp1221Ter | |
| ENST00000003084.10:c.3846G>A | ENSP00000003084.6:p.Trp1282Ter | |
| ENST00000426809.5:c.3756G>A | ENSP00000389119.1:p.Trp1252Ter | |
| NM_000492.3:c.3846G>A , LRG_663t1:c.3846G>A | NP_000483.3:p.Trp1282Ter | |
| XM_011515751.1:c.3936G>A | XP_011514053.1:p.Trp1312Ter | |
| XM_011515752.1:c.3936G>A | XP_011514054.1:p.Trp1312Ter | |
| XM_011515753.1:c.3603G>A | XP_011514055.1:p.Trp1201Ter | |
| XM_011515754.1:c.3603G>A | XP_011514056.1:p.Trp1201Ter | |
| NM_000492.4:c.3846G>A MANE Select | NP_000483.3:p.Trp1282Ter |