Linked Data
ClinVar Variation Id:
367698
dbSNP Id:
rs782697907
ExAC:
X:100617534 G / A
gnomAD v2:
X-100617534-G-A
gnomAD v3:
X-101362546-G-A
gnomAD v4:
X-101362546-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101362546G>A , CM000685.2:g.101362546G>A | GRCh38 |
| NC_000023.10:g.100617534G>A , CM000685.1:g.100617534G>A | GRCh37 |
| NC_000023.9:g.100504190G>A | NCBI36 |
| NG_009616.1:g.28679C>T , LRG_128:g.28679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464006.2:n.300+15C>T | ||
| ENST00000478995.2:n.680+15C>T | ||
| ENST00000488970.2:n.678+15C>T | ||
| ENST00000695614.1:c.520+15C>T | ENSP00000512053.1:n.520+15C>T | |
| ENST00000695615.1:c.520+15C>T | ENSP00000512054.1:n.520+15C>T | |
| ENST00000695616.1:c.*365+15C>T | ENSP00000512055.1:n.*365+15C>T | |
| ENST00000695617.1:c.517+15C>T | ENSP00000512056.1:n.517+15C>T | |
| ENST00000695618.1:c.*269+15C>T | ENSP00000512058.1:n.*269+15C>T | |
| ENST00000695619.1:c.*365+15C>T | ENSP00000512059.1:n.*365+15C>T | |
| ENST00000695620.1:c.*365+15C>T | ENSP00000512060.1:n.*365+15C>T | |
| ENST00000695621.1:c.520+15C>T | ENSP00000512061.1:n.520+15C>T | |
| ENST00000695622.1:c.520+15C>T | ENSP00000512062.1:n.520+15C>T | |
| ENST00000695623.1:c.520+15C>T | ENSP00000512063.1:n.520+15C>T | |
| ENST00000695625.1:c.520+15C>T | ENSP00000512064.1:n.520+15C>T | |
| ENST00000703407.1:c.520+15C>T | ENSP00000512057.1:n.520+15C>T | |
| ENST00000308731.8:c.520+15C>T MANE Select | ENSP00000308176.8:n.520+15C>T | |
| ENST00000308731.7:c.520+15C>T | ENSP00000308176.7:n.520+15C>T | |
| ENST00000372880.5:c.520+15C>T | ENSP00000361971.1:n.520+15C>T | |
| ENST00000464006.1:n.255+15C>T | ||
| ENST00000618050.4:c.520+15C>T | ENSP00000479125.1:n.520+15C>T | |
| ENST00000621635.4:c.622+15C>T | ENSP00000483570.1:n.622+15C>T | |
| NM_000061.2:c.520+15C>T , LRG_128t1:c.520+15C>T | NP_000052.1:n.520+15C>T | |
| NM_001287344.1:c.622+15C>T | NP_001274273.1:n.622+15C>T | |
| NM_001287345.1:c.520+15C>T | NP_001274274.1:n.520+15C>T | |
| NM_000061.3:c.520+15C>T MANE Select | NP_000052.1:n.520+15C>T | |
| NM_001287344.2:c.622+15C>T | NP_001274273.1:n.622+15C>T | |
| NM_001287345.2:c.520+15C>T | NP_001274274.1:n.520+15C>T |