Linked Data
ClinVar Variation Id:
1620259
ClinVar RCV Id:
RCV002089335
dbSNP Id:
rs757219158
ExAC:
1:2337906 G / A
gnomAD v2:
1-2337906-G-A
gnomAD v3:
1-2406467-G-A
gnomAD v4:
1-2406467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406467G>A , CM000663.2:g.2406467G>A | GRCh38 |
| NC_000001.10:g.2337906G>A , CM000663.1:g.2337906G>A | GRCh37 |
| NC_000001.9:g.2327766G>A | NCBI36 |
| NG_008342.1:g.11105C>T | |
| NG_016128.1:g.19693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.972+17C>T | ENSP00000288774.3:n.972+17C>T | |
| ENST00000447513.7:c.912+17C>T MANE Select | ENSP00000407922.2:n.912+17C>T | |
| ENST00000650293.1:c.866+17C>T | ||
| ENST00000288774.7:c.972+17C>T | ENSP00000288774.3:n.972+17C>T | |
| ENST00000447513.6:c.912+17C>T | ENSP00000407922.2:n.912+17C>T | |
| ENST00000507596.5:c.912+17C>T | ENSP00000424291.1:n.912+17C>T | |
| NM_002617.3:c.912+17C>T | NP_002608.1:n.912+17C>T | |
| NM_153818.1:c.972+17C>T | NP_722540.1:n.972+17C>T | |
| XM_011541573.1:c.969+17C>T | XP_011539875.1:n.969+17C>T | |
| XM_011541574.1:c.537+17C>T | XP_011539876.1:n.537+17C>T | |
| XM_011541575.1:c.537+17C>T | XP_011539877.1:n.537+17C>T | |
| XR_946666.1:n.1028+17C>T | ||
| XR_946666.2:n.977+17C>T | ||
| NM_001374425.1:c.969+17C>T | NP_001361354.1:n.969+17C>T | |
| NM_001374426.1:c.537+17C>T | NP_001361355.1:n.537+17C>T | |
| NM_001374427.1:c.480+17C>T | NP_001361356.1:n.480+17C>T | |
| NM_002617.4:c.912+17C>T MANE Select | NP_002608.1:n.912+17C>T | |
| NM_153818.2:c.972+17C>T | NP_722540.1:n.972+17C>T | |
| NR_164636.1:n.1027+17C>T |