Linked Data
ClinVar Variation Id:
2872297
ClinVar RCV Id:
RCV003602688
dbSNP Id:
rs760232619
ExAC:
11:66617606 A / C
gnomAD v2:
11-66617606-A-C
gnomAD v4:
11-66850135-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66850135A>C , CM000673.2:g.66850135A>C | GRCh38 |
| NC_000011.9:g.66617606A>C , CM000673.1:g.66617606A>C | GRCh37 |
| NC_000011.8:g.66374182A>C | NCBI36 |
| NG_008319.1:g.113242T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393958.7:c.2719-19T>G | ENSP00000377530.2:n.2719-19T>G | |
| ENST00000393960.7:c.2719-19T>G MANE Select | ENSP00000377532.1:n.2719-19T>G | |
| ENST00000525476.2:n.290-70T>G | ||
| ENST00000528224.2:c.*728-19T>G | ENSP00000498317.1:n.*728-19T>G | |
| ENST00000529047.6:c.2719-19T>G | ENSP00000435905.2:n.2719-19T>G | |
| ENST00000651036.1:c.2719-19T>G | ENSP00000498406.1:n.2719-19T>G | |
| ENST00000651469.1:c.*1195-19T>G | ENSP00000498712.1:n.*1195-19T>G | |
| ENST00000651854.1:c.2719-19T>G | ENSP00000498994.1:n.2719-19T>G | |
| ENST00000652125.1:c.2719-19T>G | ENSP00000498302.1:n.2719-19T>G | |
| ENST00000393955.6:c.2719-19T>G | ENSP00000377527.2:n.2719-19T>G | |
| ENST00000393958.6:c.2719-19T>G | ENSP00000377530.2:n.2719-19T>G | |
| ENST00000393960.5:c.2719-19T>G | ENSP00000377532.1:n.2719-19T>G | |
| ENST00000529047.5:c.79-19T>G | ENSP00000435905.1:n.79-19T>G | |
| NM_000920.3:c.2719-19T>G | NP_000911.2:n.2719-19T>G | |
| NM_001040716.1:c.2719-19T>G | NP_001035806.1:n.2719-19T>G | |
| NM_022172.2:c.2719-19T>G | NP_071504.2:n.2719-19T>G | |
| XM_005274031.3:c.2719-19T>G | XP_005274088.1:n.2719-19T>G | |
| XM_005274032.3:c.2719-19T>G | XP_005274089.1:n.2719-19T>G | |
| XM_006718577.2:c.2719-19T>G | XP_006718640.1:n.2719-19T>G | |
| XM_006718578.2:c.2719-19T>G | XP_006718641.1:n.2719-19T>G | |
| XM_006718579.2:c.1198-19T>G | XP_006718642.1:n.1198-19T>G | |
| XM_011545085.1:c.2719-19T>G | XP_011543387.1:n.2719-19T>G | |
| XM_011545086.1:c.2719-19T>G | XP_011543388.1:n.2719-19T>G | |
| XM_011545087.1:c.1423-19T>G | XP_011543389.1:n.1423-19T>G | |
| XM_011545088.1:c.1354-19T>G | XP_011543390.1:n.1354-19T>G | |
| XM_005274031.4:c.2719-19T>G | XP_005274088.1:n.2719-19T>G | |
| XM_005274032.4:c.2719-19T>G | XP_005274089.1:n.2719-19T>G | |
| XM_006718578.3:c.2719-19T>G | XP_006718641.1:n.2719-19T>G | |
| XM_006718579.3:c.1198-19T>G | XP_006718642.1:n.1198-19T>G | |
| XM_011545086.2:c.2719-19T>G | XP_011543388.1:n.2719-19T>G | |
| XM_011545087.2:c.1423-19T>G | XP_011543389.1:n.1423-19T>G | |
| XM_017017868.1:c.2719-19T>G | XP_016873357.1:n.2719-19T>G | |
| XM_017017869.1:c.2719-19T>G | XP_016873358.1:n.2719-19T>G | |
| XM_017017870.1:c.2719-19T>G | XP_016873359.1:n.2719-19T>G | |
| XM_017017871.1:c.2719-19T>G | XP_016873360.1:n.2719-19T>G | |
| XM_017017872.2:c.2719-19T>G | XP_016873361.1:n.2719-19T>G | |
| NM_000920.4:c.2719-19T>G | NP_000911.2:n.2719-19T>G | |
| NM_001040716.2:c.2719-19T>G MANE Select | NP_001035806.1:n.2719-19T>G | |
| NM_022172.3:c.2719-19T>G | NP_071504.2:n.2719-19T>G |