Linked Data
dbSNP Id:
rs1057339109
gnomAD v2:
X-100608675-T-A
gnomAD v3:
X-101353687-T-A
gnomAD v4:
X-101353687-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353687T>A , CM000685.2:g.101353687T>A | GRCh38 |
| NC_000023.10:g.100608675T>A , CM000685.1:g.100608675T>A | GRCh37 |
| NC_000023.9:g.100495331T>A | NCBI36 |
| NG_009616.1:g.37538A>T , LRG_128:g.37538A>T | |
| NG_011734.1:g.283A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3267+183A>T | ||
| ENST00000488970.2:n.3906+183A>T | ||
| ENST00000695614.1:c.1750+183A>T | ENSP00000512053.1:n.1750+183A>T | |
| ENST00000695615.1:c.1750+183A>T | ENSP00000512054.1:n.1750+183A>T | |
| ENST00000695616.1:c.*1595+183A>T | ENSP00000512055.1:n.*1595+183A>T | |
| ENST00000695617.1:c.1747+183A>T | ENSP00000512056.1:n.1747+183A>T | |
| ENST00000695618.1:c.*1499+183A>T | ENSP00000512058.1:n.*1499+183A>T | |
| ENST00000695619.1:c.*1460+183A>T | ENSP00000512059.1:n.*1460+183A>T | |
| ENST00000695620.1:c.*1676+183A>T | ENSP00000512060.1:n.*1676+183A>T | |
| ENST00000695621.1:c.*175+183A>T | ENSP00000512061.1:n.*175+183A>T | |
| ENST00000695622.1:c.1687+183A>T | ENSP00000512062.1:n.1687+183A>T | |
| ENST00000695623.1:c.1744+183A>T | ENSP00000512063.1:n.1744+183A>T | |
| ENST00000695624.1:n.1055+183A>T | ||
| ENST00000695625.1:c.1750+183A>T | ENSP00000512064.1:n.1750+183A>T | |
| ENST00000695626.1:c.505+183A>T | ENSP00000512065.1:n.505+183A>T | |
| ENST00000695627.1:c.698+183A>T | ENSP00000512066.1:n.698+183A>T | |
| ENST00000695628.1:c.309+183A>T | ENSP00000512067.1:n.309+183A>T | |
| ENST00000695629.1:c.191-336A>T | ENSP00000512068.1:n.191-336A>T | |
| ENST00000695630.1:c.477+183A>T | ||
| ENST00000695631.1:c.115-439A>T | ||
| ENST00000703407.1:c.1222+183A>T | ENSP00000512057.1:n.1222+183A>T | |
| ENST00000308731.8:c.1750+183A>T MANE Select | ENSP00000308176.8:n.1750+183A>T | |
| ENST00000308731.7:c.1750+183A>T | ENSP00000308176.7:n.1750+183A>T | |
| ENST00000372880.5:c.1222+183A>T | ENSP00000361971.1:n.1222+183A>T | |
| ENST00000470069.1:n.115+183A>T | ||
| ENST00000488970.1:n.352+183A>T | ||
| ENST00000618050.4:c.1749+183A>T | ENSP00000479125.1:n.1749+183A>T | |
| ENST00000621635.4:c.1852+183A>T | ENSP00000483570.1:n.1852+183A>T | |
| NM_000061.2:c.1750+183A>T , LRG_128t1:c.1750+183A>T | NP_000052.1:n.1750+183A>T | |
| NM_001287344.1:c.1852+183A>T | NP_001274273.1:n.1852+183A>T | |
| NM_001287345.1:c.1222+183A>T | NP_001274274.1:n.1222+183A>T | |
| NM_000061.3:c.1750+183A>T MANE Select | NP_000052.1:n.1750+183A>T | |
| NM_001287344.2:c.1852+183A>T | NP_001274273.1:n.1852+183A>T | |
| NM_001287345.2:c.1222+183A>T | NP_001274274.1:n.1222+183A>T |