Linked Data
ClinVar Variation Id:
194367
ClinVar RCV Id:
RCV000174724
RCV000305473
RCV000340411
RCV000396920
RCV000724402
RCV001174152
RCV001517036
dbSNP Id:
rs370608239
ExAC:
7:30668192 G / A
gnomAD v2:
7-30668192-G-A
gnomAD v3:
7-30628576-G-A
gnomAD v4:
7-30628576-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30628576G>A , CM000669.2:g.30628576G>A | GRCh38 |
| NC_000007.13:g.30668192G>A , CM000669.1:g.30668192G>A | GRCh37 |
| NC_000007.12:g.30634717G>A | NCBI36 |
| NG_007942.1:g.39012G>A , LRG_243:g.39012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1716G>A MANE Select | ENSP00000373918.3:p.Pro572= | |
| ENST00000444666.6:c.*137G>A | ENSP00000415447.2:n.*137G>A | |
| ENST00000465748.2:n.1197G>A | ||
| ENST00000470392.2:n.1806G>A | ||
| ENST00000485784.2:n.1795G>A | ||
| ENST00000496643.2:n.33G>A | ||
| ENST00000674616.1:c.*1430G>A | ENSP00000502408.1:n.*1430G>A | |
| ENST00000674643.1:c.*816G>A | ENSP00000501636.1:n.*816G>A | |
| ENST00000674737.1:c.*1054G>A | ENSP00000502464.1:n.*1054G>A | |
| ENST00000674807.1:c.1630G>A | ENSP00000502814.1:p.Glu544Lys | |
| ENST00000674815.1:c.1347G>A | ENSP00000502799.1:p.Pro449= | |
| ENST00000674851.1:c.1347G>A | ENSP00000502451.1:p.Pro449= | |
| ENST00000674969.1:n.3589G>A | ||
| ENST00000675051.1:c.1515G>A | ENSP00000502296.1:p.Pro505= | |
| ENST00000675529.1:c.*1586G>A | ENSP00000501655.1:n.*1586G>A | |
| ENST00000675587.1:n.2548G>A | ||
| ENST00000675651.1:c.1716G>A | ENSP00000502513.1:p.Pro572= | |
| ENST00000675693.1:c.1548G>A | ENSP00000502174.1:p.Pro516= | |
| ENST00000675810.1:c.1614G>A | ENSP00000502743.1:p.Pro538= | |
| ENST00000675859.1:c.1630G>A | ENSP00000502033.1:p.Glu544Lys | |
| ENST00000675863.1:n.1724G>A | ||
| ENST00000675886.1:n.7756G>A | ||
| ENST00000676088.1:c.*1658G>A | ENSP00000501884.1:n.*1658G>A | |
| ENST00000676140.1:c.*661G>A | ENSP00000502571.1:n.*661G>A | |
| ENST00000676164.1:c.*1167G>A | ENSP00000501986.1:n.*1167G>A | |
| ENST00000676210.1:c.*1005G>A | ENSP00000502373.1:n.*1005G>A | |
| ENST00000676259.1:c.*1148G>A | ENSP00000501980.1:n.*1148G>A | |
| ENST00000676403.1:c.1716G>A | ENSP00000502681.1:p.Pro572= | |
| ENST00000389266.7:c.1716G>A | ENSP00000373918.3:p.Pro572= | |
| ENST00000444666.5:c.371G>A | ENSP00000415447.1:n.371G>A | |
| ENST00000465748.1:n.87G>A | ||
| ENST00000470392.1:n.438G>A | ||
| NM_001316772.1:c.1554G>A | NP_001303701.1:p.Pro518= | |
| NM_002047.2:c.1716G>A , LRG_243t1:c.1716G>A | NP_002038.2:p.Pro572= | |
| NM_002047.3:c.1716G>A | NP_002038.2:p.Pro572= | |
| XM_006715686.1:c.1347G>A | XP_006715749.1:p.Pro449= | |
| XM_006715686.2:c.1347G>A | XP_006715749.1:p.Pro449= | |
| NM_002047.4:c.1716G>A MANE Select | NP_002038.2:p.Pro572= |