Linked Data
ClinVar Variation Id:
206694
ClinVar RCV Id:
RCV000188776
dbSNP Id:
rs796052939
gnomAD v2:
16-29823645-G-A
gnomAD v3:
16-29812324-G-A
gnomAD v4:
16-29812324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29812324G>A , CM000678.2:g.29812324G>A | GRCh38 |
| NC_000016.9:g.29823645G>A , CM000678.1:g.29823645G>A | GRCh37 |
| NC_000016.8:g.29731146G>A | NCBI36 |
| NG_032039.1:g.5237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358758.12:c.-66+1G>A MANE Select | ENSP00000351608.7:n.-66+1G>A | |
| ENST00000567551.2:c.-66+1G>A | ENSP00000489813.1:n.-66+1G>A | |
| ENST00000636001.1:n.70+1G>A | ||
| ENST00000636019.1:n.87+1G>A | ||
| ENST00000636131.1:c.-66+1G>A | ENSP00000490390.1:n.-66+1G>A | |
| ENST00000636619.1:c.-66+1G>A | ENSP00000489669.1:n.-66+1G>A | |
| ENST00000637290.1:c.-66+1G>A | ENSP00000490278.1:n.-66+1G>A | |
| ENST00000637403.1:c.-66+1G>A | ENSP00000489782.1:n.-66+1G>A | |
| ENST00000637542.1:n.51+348G>A | ||
| ENST00000637565.1:c.-66+1G>A | ENSP00000490207.1:n.-66+1G>A | |
| ENST00000637596.1:c.-65-666G>A | ENSP00000489805.1:n.-65-666G>A | |
| ENST00000647876.1:c.-66+1G>A | ENSP00000498021.1:n.-66+1G>A | |
| ENST00000300797.7:c.-93G>A | ENSP00000300797.6:n.-93G>A | |
| ENST00000358758.11:c.-66+1G>A | ENSP00000351608.7:n.-66+1G>A | |
| ENST00000562148.2:c.-66+288G>A | ENSP00000454634.2:n.-66+288G>A | |
| ENST00000567551.1:n.48+1G>A | ||
| ENST00000567659.3:c.-66+1G>A | ENSP00000456226.1:n.-66+1G>A | |
| ENST00000568516.1:n.530G>A | ||
| ENST00000572820.2:c.-93G>A | ENSP00000458291.2:n.-93G>A | |
| ENST00000609618.2:c.-66+1G>A | ENSP00000476774.2:n.-66+1G>A | |
| NM_001256442.1:c.-66+1G>A | NP_001243371.1:n.-66+1G>A | |
| NM_001256443.1:c.-93G>A | NP_001243372.1:n.-93G>A | |
| NM_145239.2:c.-66+1G>A | NP_660282.2:n.-66+1G>A | |
| XM_011545715.1:c.-93G>A | XP_011544017.1:n.-93G>A | |
| XM_011545716.1:c.-66+288G>A | XP_011544018.1:n.-66+288G>A | |
| XM_011545715.3:c.-93G>A | XP_011544017.1:n.-93G>A | |
| XM_017022887.2:c.-66+1G>A | XP_016878376.1:n.-66+1G>A | |
| XM_017022888.2:c.-93G>A | XP_016878377.1:n.-93G>A | |
| XM_017022889.2:c.-66+1G>A | XP_016878378.1:n.-66+1G>A | |
| NM_145239.3:c.-66+1G>A MANE Select | NP_660282.2:n.-66+1G>A | |
| NM_001256442.2:c.-66+1G>A | NP_001243371.1:n.-66+1G>A | |
| NM_001256443.2:c.-93G>A | NP_001243372.1:n.-93G>A |