Linked Data
dbSNP Id:
rs753225455
ExAC:
19:13220757 C / A
gnomAD v2:
19-13220757-C-A
gnomAD v3:
19-13109943-C-A
gnomAD v4:
19-13109943-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13109943C>A , CM000681.2:g.13109943C>A | GRCh38 |
| NC_000019.9:g.13220757C>A , CM000681.1:g.13220757C>A | GRCh37 |
| NC_000019.8:g.13081757C>A | NCBI36 |
| NG_054900.1:g.12625G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357720.9:c.1078G>T MANE Select | ENSP00000350352.4:p.Gly360Cys | |
| ENST00000221504.12:c.1020-105G>T | ENSP00000221504.7:n.1020-105G>T | |
| ENST00000357720.8:c.1078G>T | ENSP00000350352.4:p.Gly360Cys | |
| ENST00000437766.5:c.1078G>T | ENSP00000416149.1:p.Gly360Cys | |
| ENST00000587487.5:c.436G>T | ENSP00000465370.1:p.Gly146Cys | |
| ENST00000588511.5:n.1263G>T | ||
| ENST00000592062.5:c.1078G>T | ENSP00000466967.1:p.Gly360Cys | |
| ENST00000593157.5:n.1107G>T | ||
| NM_001136035.2:c.1078G>T | NP_001129507.1:p.Gly360Cys | |
| NM_001142554.1:c.1020-105G>T | NP_001136026.1:n.1020-105G>T | |
| NM_017722.3:c.1078G>T | NP_060192.1:p.Gly360Cys | |
| XM_005259983.1:c.1020-105G>T | XP_005260040.1:n.1020-105G>T | |
| XM_006722793.2:c.436G>T | XP_006722856.1:p.Gly146Cys | |
| XM_011528124.1:c.970G>T | XP_011526426.1:p.Gly324Cys | |
| XM_011528125.1:c.436G>T | XP_011526427.1:p.Gly146Cys | |
| XM_011528126.1:c.295G>T | XP_011526428.1:p.Gly99Cys | |
| NM_001136035.3:c.1078G>T | NP_001129507.1:p.Gly360Cys | |
| NM_001142554.2:c.1020-105G>T | NP_001136026.1:n.1020-105G>T | |
| NM_001351760.1:c.1020-105G>T | NP_001338689.1:n.1020-105G>T | |
| NM_001351761.1:c.970G>T | NP_001338690.1:p.Gly324Cys | |
| NM_001351762.1:c.295G>T | NP_001338691.1:p.Gly99Cys | |
| NM_017722.4:c.1078G>T | NP_060192.1:p.Gly360Cys | |
| XM_024451587.1:c.436G>T | XP_024307355.1:p.Gly146Cys | |
| XM_024451588.1:c.436G>T | XP_024307356.1:p.Gly146Cys | |
| XM_024451589.1:c.436G>T | XP_024307357.1:p.Gly146Cys | |
| XM_024451590.1:c.378-105G>T | XP_024307358.1:n.378-105G>T | |
| XM_024451591.1:c.295G>T | XP_024307359.1:p.Gly99Cys | |
| XM_024451592.1:c.295G>T | XP_024307360.1:p.Gly99Cys | |
| XM_024451593.1:c.295G>T | XP_024307361.1:p.Gly99Cys | |
| XR_002958328.1:n.1146-105G>T | ||
| XR_002958329.1:n.845-105G>T | ||
| NM_001136035.4:c.1078G>T MANE Select | NP_001129507.1:p.Gly360Cys | |
| NM_001142554.3:c.1020-105G>T | NP_001136026.1:n.1020-105G>T | |
| NM_001351760.2:c.1020-105G>T | NP_001338689.1:n.1020-105G>T | |
| NM_001351761.2:c.970G>T | NP_001338690.1:p.Gly324Cys | |
| NM_001351762.2:c.295G>T | NP_001338691.1:p.Gly99Cys | |
| NM_017722.5:c.1078G>T | NP_060192.1:p.Gly360Cys |