Linked Data
ClinVar Variation Id:
1651177
ClinVar RCV Id:
RCV002155704
dbSNP Id:
rs2118493033
gnomAD v4:
9-100240045-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100240045G>A , CM000671.2:g.100240045G>A | GRCh38 |
| NC_000009.11:g.103002327G>A , CM000671.1:g.103002327G>A | GRCh37 |
| NC_000009.10:g.102042148G>A | NCBI36 |
| NG_008316.1:g.145817G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262457.7:c.616-15G>A MANE Select | ENSP00000262457.2:n.616-15G>A | |
| ENST00000262456.6:c.616-15G>A | ENSP00000262456.2:n.616-15G>A | |
| ENST00000262457.6:c.616-15G>A | ENSP00000262457.2:n.616-15G>A | |
| ENST00000460636.2:n.888-15G>A | ||
| NM_014425.3:c.616-15G>A | NP_055240.2:n.616-15G>A | |
| NM_183245.2:c.616-15G>A | NP_899068.1:n.616-15G>A | |
| NR_051962.1:n.925-15G>A | ||
| XM_005251923.3:c.616-15G>A | XP_005251980.1:n.616-15G>A | |
| XM_005251924.3:c.328-15G>A | XP_005251981.1:n.328-15G>A | |
| XM_011518531.1:c.616-15G>A | XP_011516833.1:n.616-15G>A | |
| XM_011518532.1:c.616-15G>A | XP_011516834.1:n.616-15G>A | |
| XM_011518533.1:c.616-15G>A | XP_011516835.1:n.616-15G>A | |
| XM_011518534.1:c.328-15G>A | XP_011516836.1:n.328-15G>A | |
| XM_011518535.1:c.328-15G>A | XP_011516837.1:n.328-15G>A | |
| XM_011518536.1:c.328-15G>A | XP_011516838.1:n.328-15G>A | |
| XM_011518537.1:c.328-15G>A | XP_011516839.1:n.328-15G>A | |
| XM_011518538.1:c.328-15G>A | XP_011516840.1:n.328-15G>A | |
| XM_011518539.1:c.295-15G>A | XP_011516841.1:n.295-15G>A | |
| XM_011518540.1:c.295-15G>A | XP_011516842.1:n.295-15G>A | |
| XM_011518541.1:c.295-15G>A | XP_011516843.1:n.295-15G>A | |
| XM_011518542.1:c.328-15G>A | XP_011516844.1:n.328-15G>A | |
| XM_011518543.1:c.-374-15G>A | XP_011516845.1:n.-374-15G>A | |
| XR_242585.1:n.872-15G>A | ||
| XR_242586.1:n.872-15G>A | ||
| XR_428522.1:n.872-15G>A | ||
| NM_001318381.1:c.328-15G>A | NP_001305310.1:n.328-15G>A | |
| NM_001318382.1:c.-374-15G>A | NP_001305311.1:n.-374-15G>A | |
| NM_014425.4:c.616-15G>A | NP_055240.2:n.616-15G>A | |
| NR_134606.1:n.872-15G>A | ||
| NM_014425.5:c.616-15G>A MANE Select | NP_055240.2:n.616-15G>A | |
| NM_001318381.2:c.328-15G>A | NP_001305310.1:n.328-15G>A | |
| NM_001318382.2:c.-374-15G>A | NP_001305311.1:n.-374-15G>A | |
| NR_134606.2:n.814-15G>A |