Linked Data
ClinVar Variation Id:
193471
dbSNP Id:
rs200055760
ExAC:
15:72978600 C / T
gnomAD v2:
15-72978600-C-T
gnomAD v3:
15-72686259-C-T
gnomAD v4:
15-72686259-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72686259C>T , CM000677.2:g.72686259C>T | GRCh38 |
| NC_000015.9:g.72978600C>T , CM000677.1:g.72978600C>T | GRCh37 |
| NC_000015.8:g.70765653C>T | NCBI36 |
| NG_009416.2:g.5075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.24+8C>T MANE Select | ENSP00000268057.4:n.24+8C>T | |
| ENST00000268057.8:c.24+8C>T | ENSP00000268057.4:n.24+8C>T | |
| ENST00000395205.6:c.-446+8C>T | ENSP00000378631.3:n.-446+8C>T | |
| ENST00000561914.5:c.24+8C>T | ENSP00000457795.1:n.24+8C>T | |
| ENST00000562084.5:c.32C>T | ENSP00000454718.1:p.Ala11Val | |
| ENST00000563600.5:c.24+8C>T | ENSP00000457753.1:n.24+8C>T | |
| ENST00000565160.5:c.24+8C>T | ENSP00000455412.1:n.24+8C>T | |
| ENST00000566400.5:c.24+8C>T | ENSP00000456759.1:n.24+8C>T | |
| ENST00000566938.5:c.24+8C>T | ENSP00000456463.1:n.24+8C>T | |
| ENST00000567279.5:c.24+8C>T | ENSP00000456664.1:n.24+8C>T | |
| ENST00000569338.5:c.15+8C>T | ENSP00000456758.1:n.15+8C>T | |
| ENST00000569440.5:c.24+8C>T | ENSP00000457958.1:n.24+8C>T | |
| NM_001252678.1:c.-446+8C>T | NP_001239607.1:n.-446+8C>T | |
| NM_033028.4:c.24+8C>T | NP_149017.2:n.24+8C>T | |
| NR_045565.1:n.73+8C>T | ||
| NR_045566.1:n.81C>T | ||
| XM_006720625.2:c.24+8C>T | XP_006720688.1:n.24+8C>T | |
| XM_011521848.1:c.-498+8C>T | XP_011520150.1:n.-498+8C>T | |
| XM_011521849.1:c.-381+8C>T | XP_011520151.1:n.-381+8C>T | |
| XM_011521851.1:c.-590+8C>T | XP_011520153.1:n.-590+8C>T | |
| NM_001320665.1:c.24+8C>T | NP_001307594.1:n.24+8C>T | |
| XM_017022450.1:c.-258C>T | XP_016877939.1:n.-258C>T | |
| XM_017022452.1:c.-686C>T | XP_016877941.1:n.-686C>T | |
| XM_017022453.1:c.-386+8C>T | XP_016877942.1:n.-386+8C>T | |
| XM_017022454.1:c.-334+8C>T | XP_016877943.1:n.-334+8C>T | |
| NM_033028.5:c.24+8C>T MANE Select | NP_149017.2:n.24+8C>T | |
| NM_001252678.2:c.-446+8C>T | NP_001239607.1:n.-446+8C>T | |
| NM_001320665.2:c.24+8C>T | NP_001307594.1:n.24+8C>T | |
| NR_045565.2:n.45+8C>T | ||
| NR_045566.2:n.53C>T |