Linked Data
dbSNP Id:
rs782253327
ExAC:
X:100611817 C / A
gnomAD v2:
X-100611817-C-A
gnomAD v3:
X-101356829-C-A
gnomAD v4:
X-101356829-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356829C>A , CM000685.2:g.101356829C>A | GRCh38 |
| NC_000023.10:g.100611817C>A , CM000685.1:g.100611817C>A | GRCh37 |
| NC_000023.9:g.100498473C>A | NCBI36 |
| NG_009616.1:g.34396G>T , LRG_128:g.34396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.1464G>T | ||
| ENST00000488970.2:n.1462G>T | ||
| ENST00000695614.1:c.1304G>T | ENSP00000512053.1:p.Gly435Val | |
| ENST00000695615.1:c.1304G>T | ENSP00000512054.1:p.Gly435Val | |
| ENST00000695616.1:c.*1149G>T | ENSP00000512055.1:n.*1149G>T | |
| ENST00000695617.1:c.1301G>T | ENSP00000512056.1:p.Gly434Val | |
| ENST00000695618.1:c.*1053G>T | ENSP00000512058.1:n.*1053G>T | |
| ENST00000695619.1:c.*1014G>T | ENSP00000512059.1:n.*1014G>T | |
| ENST00000695620.1:c.*1149G>T | ENSP00000512060.1:n.*1149G>T | |
| ENST00000695621.1:c.1304G>T | ENSP00000512061.1:p.Gly435Val | |
| ENST00000695622.1:c.1241G>T | ENSP00000512062.1:p.Gly414Val | |
| ENST00000695623.1:c.1298G>T | ENSP00000512063.1:p.Gly433Val | |
| ENST00000695624.1:n.609G>T | ||
| ENST00000695625.1:c.1304G>T | ENSP00000512064.1:p.Gly435Val | |
| ENST00000695626.1:c.276G>T | ENSP00000512065.1:p.Arg92Ser | |
| ENST00000695627.1:c.317G>T | ENSP00000512066.1:p.Gly106Val | |
| ENST00000695628.1:c.190+680G>T | ENSP00000512067.1:n.190+680G>T | |
| ENST00000695629.1:c.190+680G>T | ENSP00000512068.1:n.190+680G>T | |
| ENST00000695630.1:c.313G>T | ||
| ENST00000695631.1:c.114+1481G>T | ||
| ENST00000695632.1:n.321G>T | ||
| ENST00000703407.1:c.1038+1545G>T | ENSP00000512057.1:n.1038+1545G>T | |
| ENST00000308731.8:c.1304G>T MANE Select | ENSP00000308176.8:p.Gly435Val | |
| ENST00000308731.7:c.1304G>T | ENSP00000308176.7:p.Gly435Val | |
| ENST00000372880.5:c.1038+1545G>T | ENSP00000361971.1:n.1038+1545G>T | |
| ENST00000470329.1:n.254G>T | ||
| ENST00000618050.4:c.1304G>T | ENSP00000479125.1:p.Gly435Val | |
| ENST00000621635.4:c.1406G>T | ENSP00000483570.1:p.Gly469Val | |
| NM_000061.2:c.1304G>T , LRG_128t1:c.1304G>T | NP_000052.1:p.Gly435Val | |
| NM_001287344.1:c.1406G>T | NP_001274273.1:p.Gly469Val | |
| NM_001287345.1:c.1038+1545G>T | NP_001274274.1:n.1038+1545G>T | |
| NM_000061.3:c.1304G>T MANE Select | NP_000052.1:p.Gly435Val | |
| NM_001287344.2:c.1406G>T | NP_001274273.1:p.Gly469Val | |
| NM_001287345.2:c.1038+1545G>T | NP_001274274.1:n.1038+1545G>T |