Linked Data
dbSNP Id:
rs368449643
ExAC:
X:100609713 C / T
gnomAD v2:
X-100609713-C-T
gnomAD v3:
X-101354725-C-T
gnomAD v4:
X-101354725-C-T
COSMIC:
COSN9168609
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101354725C>T , CM000685.2:g.101354725C>T | GRCh38 |
| NC_000023.10:g.100609713C>T , CM000685.1:g.100609713C>T | GRCh37 |
| NC_000023.9:g.100496369C>T | NCBI36 |
| NG_009616.1:g.36500G>A , LRG_128:g.36500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3053G>A | ||
| ENST00000488970.2:n.3051G>A | ||
| ENST00000695614.1:c.1567-31G>A | ENSP00000512053.1:n.1567-31G>A | |
| ENST00000695615.1:c.1567-31G>A | ENSP00000512054.1:n.1567-31G>A | |
| ENST00000695616.1:c.*1412-31G>A | ENSP00000512055.1:n.*1412-31G>A | |
| ENST00000695617.1:c.1564-31G>A | ENSP00000512056.1:n.1564-31G>A | |
| ENST00000695618.1:c.*1316-31G>A | ENSP00000512058.1:n.*1316-31G>A | |
| ENST00000695619.1:c.*1277-31G>A | ENSP00000512059.1:n.*1277-31G>A | |
| ENST00000695620.1:c.*1493-31G>A | ENSP00000512060.1:n.*1493-31G>A | |
| ENST00000695621.1:c.1567-31G>A | ENSP00000512061.1:n.1567-31G>A | |
| ENST00000695622.1:c.1504-31G>A | ENSP00000512062.1:n.1504-31G>A | |
| ENST00000695623.1:c.1561-31G>A | ENSP00000512063.1:n.1561-31G>A | |
| ENST00000695624.1:n.872-31G>A | ||
| ENST00000695625.1:c.1567-31G>A | ENSP00000512064.1:n.1567-31G>A | |
| ENST00000695626.1:c.322-31G>A | ENSP00000512065.1:n.322-31G>A | |
| ENST00000695627.1:c.580-737G>A | ENSP00000512066.1:n.580-737G>A | |
| ENST00000695628.1:c.191-737G>A | ENSP00000512067.1:n.191-737G>A | |
| ENST00000695629.1:c.191-1374G>A | ENSP00000512068.1:n.191-1374G>A | |
| ENST00000695630.1:c.359-737G>A | ||
| ENST00000695631.1:c.115-1477G>A | ||
| ENST00000695632.1:n.367-31G>A | ||
| ENST00000703407.1:c.1039-31G>A | ENSP00000512057.1:n.1039-31G>A | |
| ENST00000308731.8:c.1567-31G>A MANE Select | ENSP00000308176.8:n.1567-31G>A | |
| ENST00000308731.7:c.1567-31G>A | ENSP00000308176.7:n.1567-31G>A | |
| ENST00000372880.5:c.1039-31G>A | ENSP00000361971.1:n.1039-31G>A | |
| ENST00000618050.4:c.1567-31G>A | ENSP00000479125.1:n.1567-31G>A | |
| ENST00000621635.4:c.1669-31G>A | ENSP00000483570.1:n.1669-31G>A | |
| NM_000061.2:c.1567-31G>A , LRG_128t1:c.1567-31G>A | NP_000052.1:n.1567-31G>A | |
| NM_001287344.1:c.1669-31G>A | NP_001274273.1:n.1669-31G>A | |
| NM_001287345.1:c.1039-31G>A | NP_001274274.1:n.1039-31G>A | |
| NM_000061.3:c.1567-31G>A MANE Select | NP_000052.1:n.1567-31G>A | |
| NM_001287344.2:c.1669-31G>A | NP_001274273.1:n.1669-31G>A | |
| NM_001287345.2:c.1039-31G>A | NP_001274274.1:n.1039-31G>A |