Linked Data
dbSNP Id:
rs1255116507
gnomAD v2:
X-100607842-G-A
gnomAD v3:
X-101352854-G-A
gnomAD v4:
X-101352854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101352854G>A , CM000685.2:g.101352854G>A | GRCh38 |
| NC_000023.10:g.100607842G>A , CM000685.1:g.100607842G>A | GRCh37 |
| NC_000023.9:g.100494498G>A | NCBI36 |
| NG_009616.1:g.38371C>T , LRG_128:g.38371C>T | |
| NG_011734.1:g.1116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3425+340C>T | ||
| ENST00000488970.2:n.4064+340C>T | ||
| ENST00000695614.1:c.1908+340C>T | ENSP00000512053.1:n.1908+340C>T | |
| ENST00000695615.1:c.1908+340C>T | ENSP00000512054.1:n.1908+340C>T | |
| ENST00000695616.1:c.*1753+340C>T | ENSP00000512055.1:n.*1753+340C>T | |
| ENST00000695617.1:c.1905+340C>T | ENSP00000512056.1:n.1905+340C>T | |
| ENST00000695618.1:c.*1657+340C>T | ENSP00000512058.1:n.*1657+340C>T | |
| ENST00000695619.1:c.*1618+340C>T | ENSP00000512059.1:n.*1618+340C>T | |
| ENST00000695620.1:c.*1834+340C>T | ENSP00000512060.1:n.*1834+340C>T | |
| ENST00000695621.1:c.*333+340C>T | ENSP00000512061.1:n.*333+340C>T | |
| ENST00000695622.1:c.1845+340C>T | ENSP00000512062.1:n.1845+340C>T | |
| ENST00000695623.1:c.1902+340C>T | ENSP00000512063.1:n.1902+340C>T | |
| ENST00000695624.1:n.1213+340C>T | ||
| ENST00000695625.1:c.1875+373C>T | ENSP00000512064.1:n.1875+373C>T | |
| ENST00000695626.1:c.663+340C>T | ENSP00000512065.1:n.663+340C>T | |
| ENST00000695627.1:c.856+340C>T | ENSP00000512066.1:n.856+340C>T | |
| ENST00000695628.1:c.467+340C>T | ENSP00000512067.1:n.467+340C>T | |
| ENST00000695629.1:c.348+340C>T | ENSP00000512068.1:n.348+340C>T | |
| ENST00000695630.1:c.635+340C>T | ||
| ENST00000695631.1:c.169+340C>T | ||
| ENST00000703407.1:c.1380+340C>T | ENSP00000512057.1:n.1380+340C>T | |
| ENST00000308731.8:c.1908+340C>T MANE Select | ENSP00000308176.8:n.1908+340C>T | |
| ENST00000308731.7:c.1908+340C>T | ENSP00000308176.7:n.1908+340C>T | |
| ENST00000372880.5:c.1380+340C>T | ENSP00000361971.1:n.1380+340C>T | |
| ENST00000618050.4:c.1907+340C>T | ENSP00000479125.1:n.1907+340C>T | |
| ENST00000621635.4:c.2010+340C>T | ENSP00000483570.1:n.2010+340C>T | |
| NM_000061.2:c.1908+340C>T , LRG_128t1:c.1908+340C>T | NP_000052.1:n.1908+340C>T | |
| NM_001287344.1:c.2010+340C>T | NP_001274273.1:n.2010+340C>T | |
| NM_001287345.1:c.1380+340C>T | NP_001274274.1:n.1380+340C>T | |
| NM_000061.3:c.1908+340C>T MANE Select | NP_000052.1:n.1908+340C>T | |
| NM_001287344.2:c.2010+340C>T | NP_001274273.1:n.2010+340C>T | |
| NM_001287345.2:c.1380+340C>T | NP_001274274.1:n.1380+340C>T |