Linked Data
ClinVar Variation Id:
728
ClinVar RCV Id:
RCV000000764
dbSNP Id:
rs3829241
ExAC:
11:68855363 G / A
gnomAD v2:
11-68855363-G-A
gnomAD v3:
11-69087895-G-A
gnomAD v4:
11-69087895-G-A
PubMed:
PMID:18488028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69087895G>A , CM000673.2:g.69087895G>A | GRCh38 |
| NC_000011.9:g.68855363G>A , CM000673.1:g.68855363G>A | GRCh37 |
| NC_000011.8:g.68611939G>A | NCBI36 |
| NG_016153.1:g.44014G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692585.1:c.1058G>A | ENSP00000509200.1:p.Gly353Glu | |
| ENST00000294309.8:c.2201G>A MANE Select | ENSP00000294309.3:p.Gly734Glu | |
| ENST00000635811.1:c.*396G>A | ENSP00000490341.1:n.*396G>A | |
| ENST00000637084.1:c.1058G>A | ENSP00000490615.1:p.Gly353Glu | |
| ENST00000637342.1:c.2003+1965G>A | ENSP00000490171.1:n.2003+1965G>A | |
| ENST00000637504.1:c.*33+2609G>A | ENSP00000489759.1:n.*33+2609G>A | |
| ENST00000294309.7:c.2201G>A | ENSP00000294309.3:p.Gly734Glu | |
| ENST00000442692.2:n.1667G>A | ||
| ENST00000542467.1:c.1655G>A | ENSP00000445551.1:p.Gly552Glu | |
| NM_139075.3:c.2201G>A | NP_620714.2:p.Gly734Glu | |
| XM_005273824.2:c.2198G>A | XP_005273881.1:p.Gly733Glu | |
| XM_005273826.2:c.1946G>A | XP_005273883.1:p.Gly649Glu | |
| XM_005273830.2:c.1508G>A | XP_005273887.1:p.Gly503Glu | |
| XM_005273831.2:c.1508G>A | XP_005273888.1:p.Gly503Glu | |
| XM_005273832.2:c.1478G>A | XP_005273889.1:p.Gly493Glu | |
| XM_006718453.2:c.1639+6396G>A | XP_006718516.1:n.1639+6396G>A | |
| XM_006718454.2:c.1689+6396G>A | XP_006718517.1:n.1689+6396G>A | |
| XM_011544802.1:c.1961G>A | XP_011543104.1:p.Gly654Glu | |
| XM_011544807.1:c.1505G>A | XP_011543109.1:p.Gly502Glu | |
| XM_011544808.1:c.1370G>A | XP_011543110.1:p.Gly457Glu | |
| XR_247191.1:n.2252G>A | ||
| XM_005273824.4:c.2198G>A | XP_005273881.1:p.Gly733Glu | |
| XM_005273826.4:c.1946G>A | XP_005273883.1:p.Gly649Glu | |
| XM_005273830.4:c.1508G>A | XP_005273887.1:p.Gly503Glu | |
| XM_005273831.4:c.1508G>A | XP_005273888.1:p.Gly503Glu | |
| XM_005273832.4:c.1478G>A | XP_005273889.1:p.Gly493Glu | |
| XM_011544802.3:c.1961G>A | XP_011543104.1:p.Gly654Glu | |
| XM_011544807.3:c.1505G>A | XP_011543109.1:p.Gly502Glu | |
| XM_011544808.3:c.1370G>A | XP_011543110.1:p.Gly457Glu | |
| XM_017017328.2:c.1982G>A | XP_016872817.1:p.Gly661Glu | |
| XM_017017329.2:c.1979G>A | XP_016872818.1:p.Gly660Glu | |
| XM_017017330.2:c.1478G>A | XP_016872819.1:p.Gly493Glu | |
| XM_017017331.2:c.1478G>A | XP_016872820.1:p.Gly493Glu | |
| XM_017017332.2:c.1292G>A | XP_016872821.1:p.Gly431Glu | |
| XM_017017333.2:c.1259G>A | XP_016872822.1:p.Gly420Glu | |
| XM_017017334.2:c.1259G>A | XP_016872823.1:p.Gly420Glu | |
| XM_017017335.2:c.1259G>A | XP_016872824.1:p.Gly420Glu | |
| XM_017017336.2:c.1151G>A | XP_016872825.1:p.Gly384Glu | |
| XM_024448392.1:c.1991G>A | XP_024304160.1:p.Gly664Glu | |
| XM_024448393.1:c.1478G>A | XP_024304161.1:p.Gly493Glu | |
| XR_001747789.2:n.2133G>A | ||
| XR_247191.3:n.2255G>A | ||
| NM_139075.4:c.2201G>A MANE Select | NP_620714.2:p.Gly734Glu |