Linked Data
ClinVar Variation Id:
194911
dbSNP Id:
rs782702231
ExAC:
X:100604953 A / G
gnomAD v2:
X-100604953-A-G
gnomAD v3:
X-101349965-A-G
gnomAD v4:
X-101349965-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101349965A>G , CM000685.2:g.101349965A>G | GRCh38 |
| NC_000023.10:g.100604953A>G , CM000685.1:g.100604953A>G | GRCh37 |
| NC_000023.9:g.100491609A>G | NCBI36 |
| NG_009616.1:g.41260T>C , LRG_128:g.41260T>C | |
| NG_011734.1:g.4005T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3426-9T>C | ||
| ENST00000488970.2:n.4065-9T>C | ||
| ENST00000695614.1:c.1909-9T>C | ENSP00000512053.1:n.1909-9T>C | |
| ENST00000695615.1:c.1909-9T>C | ENSP00000512054.1:n.1909-9T>C | |
| ENST00000695616.1:c.*1754-9T>C | ENSP00000512055.1:n.*1754-9T>C | |
| ENST00000695617.1:c.1906-9T>C | ENSP00000512056.1:n.1906-9T>C | |
| ENST00000695618.1:c.*1658-9T>C | ENSP00000512058.1:n.*1658-9T>C | |
| ENST00000695619.1:c.*1619-9T>C | ENSP00000512059.1:n.*1619-9T>C | |
| ENST00000695620.1:c.*1835-9T>C | ENSP00000512060.1:n.*1835-9T>C | |
| ENST00000695621.1:c.*334-9T>C | ENSP00000512061.1:n.*334-9T>C | |
| ENST00000695622.1:c.1846-9T>C | ENSP00000512062.1:n.1846-9T>C | |
| ENST00000695623.1:c.1903-9T>C | ENSP00000512063.1:n.1903-9T>C | |
| ENST00000695624.1:n.1214-9T>C | ||
| ENST00000695625.1:c.1876-9T>C | ENSP00000512064.1:n.1876-9T>C | |
| ENST00000695626.1:c.664-9T>C | ENSP00000512065.1:n.664-9T>C | |
| ENST00000695627.1:c.857-9T>C | ENSP00000512066.1:n.857-9T>C | |
| ENST00000695628.1:c.468-9T>C | ENSP00000512067.1:n.468-9T>C | |
| ENST00000695629.1:c.349-9T>C | ENSP00000512068.1:n.349-9T>C | |
| ENST00000695630.1:c.636-9T>C | ||
| ENST00000695631.1:c.170-9T>C | ||
| ENST00000703407.1:c.1381-9T>C | ENSP00000512057.1:n.1381-9T>C | |
| ENST00000308731.8:c.1909-9T>C MANE Select | ENSP00000308176.8:n.1909-9T>C | |
| ENST00000308731.7:c.1909-9T>C | ENSP00000308176.7:n.1909-9T>C | |
| ENST00000372880.5:c.1381-9T>C | ENSP00000361971.1:n.1381-9T>C | |
| ENST00000618050.4:c.1908-9T>C | ENSP00000479125.1:n.1908-9T>C | |
| ENST00000621635.4:c.2011-9T>C | ENSP00000483570.1:n.2011-9T>C | |
| NM_000061.2:c.1909-9T>C , LRG_128t1:c.1909-9T>C | NP_000052.1:n.1909-9T>C | |
| NM_001287344.1:c.2011-9T>C | NP_001274273.1:n.2011-9T>C | |
| NM_001287345.1:c.1381-9T>C | NP_001274274.1:n.1381-9T>C | |
| NM_000061.3:c.1909-9T>C MANE Select | NP_000052.1:n.1909-9T>C | |
| NM_001287344.2:c.2011-9T>C | NP_001274273.1:n.2011-9T>C | |
| NM_001287345.2:c.1381-9T>C | NP_001274274.1:n.1381-9T>C |