Linked Data
ClinVar Variation Id:
11347
ClinVar RCV Id:
RCV000012100
dbSNP Id:
rs864321659
gnomAD v4:
X-101353865-C-T
PubMed:
PMID:8013627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353865C>T , CM000685.2:g.101353865C>T | GRCh38 |
| NC_000023.10:g.100608853C>T , CM000685.1:g.100608853C>T | GRCh37 |
| NC_000023.9:g.100495509C>T | NCBI36 |
| NG_009616.1:g.37360G>A , LRG_128:g.37360G>A | |
| NG_011734.1:g.105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3267+5G>A | ||
| ENST00000488970.2:n.3906+5G>A | ||
| ENST00000695614.1:c.1750+5G>A | ENSP00000512053.1:n.1750+5G>A | |
| ENST00000695615.1:c.1750+5G>A | ENSP00000512054.1:n.1750+5G>A | |
| ENST00000695616.1:c.*1595+5G>A | ENSP00000512055.1:n.*1595+5G>A | |
| ENST00000695617.1:c.1747+5G>A | ENSP00000512056.1:n.1747+5G>A | |
| ENST00000695618.1:c.*1499+5G>A | ENSP00000512058.1:n.*1499+5G>A | |
| ENST00000695619.1:c.*1460+5G>A | ENSP00000512059.1:n.*1460+5G>A | |
| ENST00000695620.1:c.*1676+5G>A | ENSP00000512060.1:n.*1676+5G>A | |
| ENST00000695621.1:c.*175+5G>A | ENSP00000512061.1:n.*175+5G>A | |
| ENST00000695622.1:c.1687+5G>A | ENSP00000512062.1:n.1687+5G>A | |
| ENST00000695623.1:c.1744+5G>A | ENSP00000512063.1:n.1744+5G>A | |
| ENST00000695624.1:n.1055+5G>A | ||
| ENST00000695625.1:c.1750+5G>A | ENSP00000512064.1:n.1750+5G>A | |
| ENST00000695626.1:c.505+5G>A | ENSP00000512065.1:n.505+5G>A | |
| ENST00000695627.1:c.698+5G>A | ENSP00000512066.1:n.698+5G>A | |
| ENST00000695628.1:c.309+5G>A | ENSP00000512067.1:n.309+5G>A | |
| ENST00000695629.1:c.191-514G>A | ENSP00000512068.1:n.191-514G>A | |
| ENST00000695630.1:c.477+5G>A | ||
| ENST00000695631.1:c.115-617G>A | ||
| ENST00000703407.1:c.1222+5G>A | ENSP00000512057.1:n.1222+5G>A | |
| ENST00000308731.8:c.1750+5G>A MANE Select | ENSP00000308176.8:n.1750+5G>A | |
| ENST00000308731.7:c.1750+5G>A | ENSP00000308176.7:n.1750+5G>A | |
| ENST00000372880.5:c.1222+5G>A | ENSP00000361971.1:n.1222+5G>A | |
| ENST00000470069.1:n.115+5G>A | ||
| ENST00000488970.1:n.352+5G>A | ||
| ENST00000618050.4:c.1749+5G>A | ENSP00000479125.1:n.1749+5G>A | |
| ENST00000621635.4:c.1852+5G>A | ENSP00000483570.1:n.1852+5G>A | |
| NM_000061.2:c.1750+5G>A , LRG_128t1:c.1750+5G>A | NP_000052.1:n.1750+5G>A | |
| NM_001287344.1:c.1852+5G>A | NP_001274273.1:n.1852+5G>A | |
| NM_001287345.1:c.1222+5G>A | NP_001274274.1:n.1222+5G>A | |
| NM_000061.3:c.1750+5G>A MANE Select | NP_000052.1:n.1750+5G>A | |
| NM_001287344.2:c.1852+5G>A | NP_001274273.1:n.1852+5G>A | |
| NM_001287345.2:c.1222+5G>A | NP_001274274.1:n.1222+5G>A |