Linked Data
ClinVar Variation Id:
235712
dbSNP Id:
rs138411530
ExAC:
X:100630121 G / A
gnomAD v2:
X-100630121-G-A
gnomAD v3:
X-101375133-G-A
gnomAD v4:
X-101375133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101375133G>A , CM000685.2:g.101375133G>A | GRCh38 |
| NC_000023.10:g.100630121G>A , CM000685.1:g.100630121G>A | GRCh37 |
| NC_000023.9:g.100516777G>A | NCBI36 |
| NG_009616.1:g.16092C>T , LRG_128:g.16092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.301+11C>T | ||
| ENST00000488970.2:n.301+11C>T | ||
| ENST00000695614.1:c.141+11C>T | ENSP00000512053.1:n.141+11C>T | |
| ENST00000695615.1:c.141+11C>T | ENSP00000512054.1:n.141+11C>T | |
| ENST00000695616.1:c.141+11C>T | ENSP00000512055.1:n.141+11C>T | |
| ENST00000695617.1:c.145+7C>T | ENSP00000512056.1:n.145+7C>T | |
| ENST00000695618.1:c.141+11C>T | ENSP00000512058.1:n.141+11C>T | |
| ENST00000695619.1:c.141+11C>T | ENSP00000512059.1:n.141+11C>T | |
| ENST00000695620.1:c.141+11C>T | ENSP00000512060.1:n.141+11C>T | |
| ENST00000695621.1:c.141+11C>T | ENSP00000512061.1:n.141+11C>T | |
| ENST00000695622.1:c.141+11C>T | ENSP00000512062.1:n.141+11C>T | |
| ENST00000695623.1:c.141+11C>T | ENSP00000512063.1:n.141+11C>T | |
| ENST00000695625.1:c.141+11C>T | ENSP00000512064.1:n.141+11C>T | |
| ENST00000695633.1:n.454+11C>T | ||
| ENST00000695643.1:c.141+11C>T | ENSP00000512078.1:n.141+11C>T | |
| ENST00000703407.1:c.141+11C>T | ENSP00000512057.1:n.141+11C>T | |
| ENST00000308731.8:c.141+11C>T MANE Select | ENSP00000308176.8:n.141+11C>T | |
| ENST00000308731.7:c.141+11C>T | ENSP00000308176.7:n.141+11C>T | |
| ENST00000372880.5:c.141+11C>T | ENSP00000361971.1:n.141+11C>T | |
| ENST00000464567.1:n.258+11C>T | ||
| ENST00000618050.4:c.141+11C>T | ENSP00000479125.1:n.141+11C>T | |
| ENST00000621635.4:c.243+11C>T | ENSP00000483570.1:n.243+11C>T | |
| NM_000061.2:c.141+11C>T , LRG_128t1:c.141+11C>T | NP_000052.1:n.141+11C>T | |
| NM_001287344.1:c.243+11C>T | NP_001274273.1:n.243+11C>T | |
| NM_001287345.1:c.141+11C>T | NP_001274274.1:n.141+11C>T | |
| NM_000061.3:c.141+11C>T MANE Select | NP_000052.1:n.141+11C>T | |
| NM_001287344.2:c.243+11C>T | NP_001274273.1:n.243+11C>T | |
| NM_001287345.2:c.141+11C>T | NP_001274274.1:n.141+11C>T |