Linked Data
ClinVar Variation Id:
878059
ClinVar RCV Id:
RCV001104342
dbSNP Id:
rs199722017
ExAC:
11:18428957 A / G
gnomAD v2:
11-18428957-A-G
gnomAD v3:
11-18407410-A-G
gnomAD v4:
11-18407410-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407410A>G , CM000673.2:g.18407410A>G | GRCh38 |
| NC_000011.9:g.18428957A>G , CM000673.1:g.18428957A>G | GRCh37 |
| NC_000011.8:g.18385533A>G | NCBI36 |
| NG_008185.1:g.17976A>G | |
| NG_011816.1:g.105A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.*129A>G MANE Select | ENSP00000395337.3:n.*129A>G | |
| ENST00000227157.8:c.*278A>G | ENSP00000227157.4:n.*278A>G | |
| ENST00000375710.7:n.1995A>G | ||
| ENST00000379412.9:c.*129A>G | ENSP00000368722.5:n.*129A>G | |
| ENST00000396222.6:c.*34A>G | ENSP00000379524.2:n.*34A>G | |
| ENST00000422447.7:c.*129A>G | ENSP00000395337.3:n.*129A>G | |
| ENST00000430553.6:c.*129A>G | ENSP00000406172.2:n.*129A>G | |
| ENST00000538451.1:n.1015A>G | ||
| ENST00000540430.5:c.*129A>G | ENSP00000445175.1:n.*129A>G | |
| ENST00000545215.5:c.*872A>G | ENSP00000442637.1:n.*872A>G | |
| NM_001135239.1:c.*129A>G | NP_001128711.1:n.*129A>G | |
| NM_001165414.1:c.*129A>G | NP_001158886.1:n.*129A>G | |
| NM_001165415.1:c.*34A>G | NP_001158887.1:n.*34A>G | |
| NM_001165416.1:c.*278A>G | NP_001158888.1:n.*278A>G | |
| NM_005566.3:c.*129A>G | NP_005557.1:n.*129A>G | |
| NR_028500.1:n.1282A>G | ||
| NM_005566.4:c.*129A>G MANE Select | NP_005557.1:n.*129A>G | |
| NM_001165415.2:c.*34A>G | NP_001158887.1:n.*34A>G | |
| NM_001135239.2:c.*129A>G | NP_001128711.1:n.*129A>G | |
| NM_001165414.2:c.*129A>G | NP_001158886.1:n.*129A>G | |
| NM_001165416.2:c.*278A>G | NP_001158888.1:n.*278A>G | |
| NR_028500.2:n.1108A>G |