Linked Data
ClinVar Variation Id:
708032
ClinVar RCV Id:
RCV000879219
dbSNP Id:
rs78814570
ExAC:
17:79663630 C / T
gnomAD v2:
17-79663630-C-T
gnomAD v3:
17-81696600-C-T
gnomAD v4:
17-81696600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81696600C>T , CM000679.2:g.81696600C>T | GRCh38 |
| NC_000017.10:g.79663630C>T , CM000679.1:g.79663630C>T | GRCh37 |
| NC_000017.9:g.77274035C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329138.9:c.1567-7C>T MANE Select | ENSP00000331201.4:n.1567-7C>T | |
| ENST00000676462.1:c.1567-7C>T | ENSP00000503043.1:n.1567-7C>T | |
| ENST00000676478.1:c.*1076-7C>T | ENSP00000504482.1:n.*1076-7C>T | |
| ENST00000676546.1:c.1567-7C>T | ENSP00000504106.1:n.1567-7C>T | |
| ENST00000676704.1:c.176-7C>T | ||
| ENST00000676729.1:c.1540-7C>T | ENSP00000503138.1:n.1540-7C>T | |
| ENST00000677044.1:c.1567-7C>T | ENSP00000504151.1:n.1567-7C>T | |
| ENST00000677109.1:c.1531-7C>T | ENSP00000503405.1:n.1531-7C>T | |
| ENST00000677159.1:n.697-7C>T | ||
| ENST00000677161.1:c.1306-7C>T | ENSP00000503695.1:n.1306-7C>T | |
| ENST00000677188.1:c.170-7C>T | ||
| ENST00000677225.1:c.1519-7C>T | ENSP00000503479.1:n.1519-7C>T | |
| ENST00000677243.1:c.1567-7C>T | ENSP00000502851.1:n.1567-7C>T | |
| ENST00000677484.1:c.1585-7C>T | ENSP00000503188.1:n.1585-7C>T | |
| ENST00000678055.1:c.173+71C>T | ||
| ENST00000678096.1:c.1507-7C>T | ENSP00000504478.1:n.1507-7C>T | |
| ENST00000678105.1:c.1366-7C>T | ENSP00000504789.1:n.1366-7C>T | |
| ENST00000678115.1:n.2028-7C>T | ||
| ENST00000678196.1:c.1567-7C>T | ENSP00000503545.1:n.1567-7C>T | |
| ENST00000678387.1:n.1702-7C>T | ||
| ENST00000678428.1:c.234-7C>T | ENSP00000503616.1:n.234-7C>T | |
| ENST00000678541.1:n.1411-7C>T | ||
| ENST00000678658.1:n.2024-7C>T | ||
| ENST00000678667.1:c.174-58C>T | ||
| ENST00000678866.1:c.1621-7C>T | ENSP00000504854.1:n.1621-7C>T | |
| ENST00000679191.1:c.1519-7C>T | ENSP00000503211.1:n.1519-7C>T | |
| ENST00000679275.1:c.*630-7C>T | ENSP00000504270.1:n.*630-7C>T | |
| ENST00000679336.1:c.1567-7C>T | ENSP00000502961.1:n.1567-7C>T | |
| ENST00000329138.8:c.1567-7C>T | ENSP00000331201.4:n.1567-7C>T | |
| ENST00000571237.1:c.574-7C>T | ENSP00000458775.1:n.574-7C>T | |
| ENST00000571647.1:n.645C>T | ||
| ENST00000573949.1:n.344+71C>T | ||
| NM_004712.4:c.1567-7C>T | NP_004703.1:n.1567-7C>T | |
| XM_005257794.2:c.1540-7C>T | XP_005257851.1:n.1540-7C>T | |
| XM_011525463.1:c.1567-7C>T | XP_011523765.1:n.1567-7C>T | |
| XM_011525464.1:c.1042-7C>T | XP_011523766.1:n.1042-7C>T | |
| XM_011525463.2:c.1567-7C>T | XP_011523765.1:n.1567-7C>T | |
| XM_017025297.1:c.1540-7C>T | XP_016880786.1:n.1540-7C>T | |
| XM_017025298.1:c.1042-7C>T | XP_016880787.1:n.1042-7C>T | |
| XM_024451024.1:c.1366-7C>T | XP_024306792.1:n.1366-7C>T | |
| XM_024451025.1:c.1366-7C>T | XP_024306793.1:n.1366-7C>T | |
| NM_004712.5:c.1567-7C>T MANE Select | NP_004703.1:n.1567-7C>T |