Linked Data
ClinVar Variation Id:
1466173
ClinVar RCV Id:
RCV001990466
dbSNP Id:
rs765313500
ExAC:
2:98340907 A / G
gnomAD v2:
2-98340907-A-G
gnomAD v3:
2-97724444-A-G
gnomAD v4:
2-97724444-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97724444A>G , CM000664.2:g.97724444A>G | GRCh38 |
| NC_000002.11:g.98340907A>G , CM000664.1:g.98340907A>G | GRCh37 |
| NC_000002.10:g.97707339A>G | NCBI36 |
| NG_007727.1:g.15877A>G , LRG_126:g.15877A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.402+6A>G | ENSP00000513759.1:n.402+6A>G | |
| ENST00000698509.1:n.542+6A>G | ||
| ENST00000264972.10:c.402+6A>G MANE Select | ENSP00000264972.5:n.402+6A>G | |
| ENST00000264972.9:c.402+6A>G | ENSP00000264972.5:n.402+6A>G | |
| ENST00000483781.5:n.595+6A>G | ||
| NM_001079.3:c.402+6A>G , LRG_126t1:c.402+6A>G | NP_001070.2:n.402+6A>G | |
| XM_005264015.3:c.402+6A>G | XP_005264072.1:n.402+6A>G | |
| XM_006712728.2:c.402+6A>G | XP_006712791.1:n.402+6A>G | |
| XM_011511783.1:c.402+6A>G | XP_011510085.1:n.402+6A>G | |
| XR_923018.1:n.604+6A>G | ||
| XR_923019.1:n.604+6A>G | ||
| XR_923020.1:n.604+6A>G | ||
| XM_017004867.1:c.771+6A>G | XP_016860356.1:n.771+6A>G | |
| XM_017004868.1:c.771+6A>G | XP_016860357.1:n.771+6A>G | |
| XM_017004869.1:c.771+6A>G | XP_016860358.1:n.771+6A>G | |
| XM_017004870.1:c.771+6A>G | XP_016860359.1:n.771+6A>G | |
| XR_001738925.1:n.2010+6A>G | ||
| XR_001738926.1:n.2010+6A>G | ||
| XR_001738927.1:n.2010+6A>G | ||
| NM_001079.4:c.402+6A>G MANE Select | NP_001070.2:n.402+6A>G | |
| NM_001378594.1:c.402+6A>G | NP_001365523.1:n.402+6A>G |