Linked Data
ClinVar Variation Id:
196279
dbSNP Id:
rs777179922
gnomAD v3:
16-88841882-C-A
gnomAD v4:
16-88841882-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841882C>A , CM000678.2:g.88841882C>A | GRCh38 |
| NC_000016.9:g.88908290C>A , CM000678.1:g.88908290C>A | GRCh37 |
| NC_000016.8:g.87435791C>A | NCBI36 |
| NG_008667.1:g.20085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.319+15G>T MANE Select | ENSP00000268695.5:n.319+15G>T | |
| ENST00000268695.9:c.319+15G>T | ENSP00000268695.5:n.319+15G>T | |
| ENST00000562593.5:n.3728+15G>T | ||
| ENST00000562831.1:c.103+15G>T | ENSP00000455174.1:n.103+15G>T | |
| ENST00000565364.1:n.454+15G>T | ||
| ENST00000567525.5:c.144+15G>T | ENSP00000454484.1:n.144+15G>T | |
| ENST00000567779.1:n.149+15G>T | ||
| ENST00000568613.5:c.438+15G>T | ENSP00000457921.1:n.438+15G>T | |
| NM_000512.4:c.319+15G>T | NP_000503.1:n.319+15G>T | |
| XM_005256301.2:c.319+15G>T | XP_005256358.1:n.319+15G>T | |
| XM_005256302.1:c.337+15G>T | XP_005256359.1:n.337+15G>T | |
| XM_011522982.1:c.337+15G>T | XP_011521284.1:n.337+15G>T | |
| XM_011522984.1:c.337+15G>T | XP_011521286.1:n.337+15G>T | |
| NM_001323543.1:c.-237+15G>T | NP_001310472.1:n.-237+15G>T | |
| NM_001323544.1:c.337+15G>T | NP_001310473.1:n.337+15G>T | |
| XM_005256301.3:c.319+15G>T | XP_005256358.1:n.319+15G>T | |
| XM_011522982.2:c.337+15G>T | XP_011521284.1:n.337+15G>T | |
| XM_017023111.2:c.337+15G>T | XP_016878600.1:n.337+15G>T | |
| XM_017023112.2:c.337+15G>T | XP_016878601.1:n.337+15G>T | |
| XM_017023113.1:c.-237+15G>T | XP_016878602.1:n.-237+15G>T | |
| NM_000512.5:c.319+15G>T MANE Select | NP_000503.1:n.319+15G>T | |
| NM_001323543.2:c.-237+15G>T | NP_001310472.1:n.-237+15G>T | |
| NM_001323544.2:c.337+15G>T | NP_001310473.1:n.337+15G>T |