Linked Data
dbSNP Id:
rs772321778
ExAC:
7:29438081 G / A
gnomAD v2:
7-29438081-G-A
gnomAD v4:
7-29398465-G-A
COSMIC:
COSM746268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29398465G>A , CM000669.2:g.29398465G>A | GRCh38 |
| NC_000007.13:g.29438081G>A , CM000669.1:g.29438081G>A | GRCh37 |
| NC_000007.12:g.29404606G>A | NCBI36 |
| NG_029365.2:g.256919G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409350.6:c.308G>A | ENSP00000386968.2:p.Gly103Glu | |
| ENST00000439384.6:n.531G>A | ||
| ENST00000446446.6:c.269G>A | ENSP00000396867.2:p.Gly90Glu | |
| ENST00000706158.1:c.*213G>A | ENSP00000516236.1:n.*213G>A | |
| ENST00000706159.1:c.181G>A | ENSP00000516237.1:p.Asp61Asn | |
| ENST00000706160.1:c.269G>A | ENSP00000516238.1:p.Gly90Glu | |
| ENST00000706161.1:c.347G>A | ENSP00000516239.1:p.Gly116Glu | |
| ENST00000706162.1:c.269G>A | ENSP00000516240.1:p.Gly90Glu | |
| ENST00000706163.1:c.50-81814G>A | ENSP00000516241.1:n.50-81814G>A | |
| ENST00000222792.11:c.269G>A MANE Select | ENSP00000222792.7:p.Gly90Glu | |
| ENST00000644824.1:c.494G>A | ENSP00000495614.1:p.Gly165Glu | |
| ENST00000222792.10:c.269G>A | ENSP00000222792.6:p.Gly90Glu | |
| ENST00000409350.5:c.308G>A | ENSP00000386968.1:p.Gly103Glu | |
| ENST00000409922.5:n.480G>A | ||
| ENST00000409964.6:n.468G>A | ||
| ENST00000412536.5:n.289G>A | ||
| ENST00000435288.6:c.168+4763G>A | ENSP00000400282.3:n.168+4763G>A | |
| ENST00000439384.5:c.494G>A | ENSP00000409843.1:p.Gly165Glu | |
| ENST00000474070.5:c.369G>A | ||
| ENST00000478128.6:n.363G>A | ||
| ENST00000482820.6:n.478G>A | ||
| ENST00000491856.1:n.1818G>A | ||
| ENST00000495789.6:c.269G>A | ENSP00000438587.2:p.Gly90Glu | |
| ENST00000539389.5:c.269G>A | ENSP00000440526.2:p.Gly90Glu | |
| ENST00000539406.5:c.269G>A | ENSP00000444063.2:p.Gly90Glu | |
| NM_001293069.1:c.494G>A | NP_001279998.1:p.Gly165Glu | |
| NM_001293070.1:c.308G>A | NP_001279999.1:p.Gly103Glu | |
| NM_001293071.1:c.164G>A | NP_001280000.1:p.Gly55Glu | |
| NM_001293072.1:c.224G>A | NP_001280001.1:p.Gly75Glu | |
| NM_004067.3:c.269G>A | NP_004058.1:p.Gly90Glu | |
| XM_011515105.1:c.572G>A | XP_011513407.1:p.Gly191Glu | |
| XM_011515106.1:c.533G>A | XP_011513408.1:p.Gly178Glu | |
| XM_011515107.1:c.347G>A | XP_011513409.1:p.Gly116Glu | |
| XM_011515108.1:c.269G>A | XP_011513410.1:p.Gly90Glu | |
| XM_011515109.1:c.230G>A | XP_011513411.1:p.Gly77Glu | |
| XM_011515110.1:c.191G>A | XP_011513412.1:p.Gly64Glu | |
| XM_011515111.1:c.164G>A | XP_011513413.1:p.Gly55Glu | |
| XM_011515112.1:c.572G>A | XP_011513414.1:p.Gly191Glu | |
| XM_011515105.2:c.572G>A | XP_011513407.1:p.Gly191Glu | |
| XM_011515106.2:c.533G>A | XP_011513408.1:p.Gly178Glu | |
| XM_011515107.2:c.347G>A | XP_011513409.1:p.Gly116Glu | |
| XM_017011721.1:c.590G>A | XP_016867210.1:p.Gly197Glu | |
| XM_017011722.1:c.365G>A | XP_016867211.1:p.Gly122Glu | |
| NM_004067.4:c.269G>A MANE Select | NP_004058.1:p.Gly90Glu | |
| NM_001293070.2:c.308G>A | NP_001279999.1:p.Gly103Glu | |
| NM_001293071.2:c.164G>A | NP_001280000.1:p.Gly55Glu | |
| NM_001293072.2:c.224G>A | NP_001280001.1:p.Gly75Glu | |
| NM_001398427.1:c.-170G>A | NP_001385356.1:n.-170G>A |