Linked Data
dbSNP Id:
rs782493736
ExAC:
X:100608367 G / T
gnomAD v2:
X-100608367-G-T
gnomAD v3:
X-101353379-G-T
gnomAD v4:
X-101353379-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353379G>T , CM000685.2:g.101353379G>T | GRCh38 |
| NC_000023.10:g.100608367G>T , CM000685.1:g.100608367G>T | GRCh37 |
| NC_000023.9:g.100495023G>T | NCBI36 |
| NG_009616.1:g.37846C>A , LRG_128:g.37846C>A | |
| NG_011734.1:g.591C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3268-28C>A | ||
| ENST00000488970.2:n.3907-28C>A | ||
| ENST00000695614.1:c.1751-28C>A | ENSP00000512053.1:n.1751-28C>A | |
| ENST00000695615.1:c.1751-28C>A | ENSP00000512054.1:n.1751-28C>A | |
| ENST00000695616.1:c.*1596-28C>A | ENSP00000512055.1:n.*1596-28C>A | |
| ENST00000695617.1:c.1748-28C>A | ENSP00000512056.1:n.1748-28C>A | |
| ENST00000695618.1:c.*1500-28C>A | ENSP00000512058.1:n.*1500-28C>A | |
| ENST00000695619.1:c.*1461-28C>A | ENSP00000512059.1:n.*1461-28C>A | |
| ENST00000695620.1:c.*1677-28C>A | ENSP00000512060.1:n.*1677-28C>A | |
| ENST00000695621.1:c.*176-28C>A | ENSP00000512061.1:n.*176-28C>A | |
| ENST00000695622.1:c.1688-28C>A | ENSP00000512062.1:n.1688-28C>A | |
| ENST00000695623.1:c.1745-28C>A | ENSP00000512063.1:n.1745-28C>A | |
| ENST00000695624.1:n.1056-28C>A | ||
| ENST00000695625.1:c.1751-28C>A | ENSP00000512064.1:n.1751-28C>A | |
| ENST00000695626.1:c.506-28C>A | ENSP00000512065.1:n.506-28C>A | |
| ENST00000695627.1:c.699-28C>A | ENSP00000512066.1:n.699-28C>A | |
| ENST00000695628.1:c.310-28C>A | ENSP00000512067.1:n.310-28C>A | |
| ENST00000695629.1:c.191-28C>A | ENSP00000512068.1:n.191-28C>A | |
| ENST00000695630.1:c.478-28C>A | ||
| ENST00000695631.1:c.115-131C>A | ||
| ENST00000703407.1:c.1223-28C>A | ENSP00000512057.1:n.1223-28C>A | |
| ENST00000308731.8:c.1751-28C>A MANE Select | ENSP00000308176.8:n.1751-28C>A | |
| ENST00000308731.7:c.1751-28C>A | ENSP00000308176.7:n.1751-28C>A | |
| ENST00000372880.5:c.1223-28C>A | ENSP00000361971.1:n.1223-28C>A | |
| ENST00000470069.1:n.116-28C>A | ||
| ENST00000488970.1:n.353-28C>A | ||
| ENST00000618050.4:c.1750-28C>A | ENSP00000479125.1:n.1750-28C>A | |
| ENST00000621635.4:c.1853-28C>A | ENSP00000483570.1:n.1853-28C>A | |
| NM_000061.2:c.1751-28C>A , LRG_128t1:c.1751-28C>A | NP_000052.1:n.1751-28C>A | |
| NM_001287344.1:c.1853-28C>A | NP_001274273.1:n.1853-28C>A | |
| NM_001287345.1:c.1223-28C>A | NP_001274274.1:n.1223-28C>A | |
| NM_000061.3:c.1751-28C>A MANE Select | NP_000052.1:n.1751-28C>A | |
| NM_001287344.2:c.1853-28C>A | NP_001274273.1:n.1853-28C>A | |
| NM_001287345.2:c.1223-28C>A | NP_001274274.1:n.1223-28C>A |