Linked Data
ClinVar Variation Id:
892767
dbSNP Id:
rs52826008
gnomAD v2:
19-7117083-C-G
gnomAD v3:
19-7117072-C-G
gnomAD v4:
19-7117072-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117072C>G , CM000681.2:g.7117072C>G | GRCh38 |
| NC_000019.9:g.7117083C>G , CM000681.1:g.7117083C>G | GRCh37 |
| NC_000019.8:g.7068083C>G | NCBI36 |
| NG_008852.2:g.181929G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.4133G>C MANE Select | ENSP00000303830.4:p.Arg1378Pro | |
| ENST00000302850.9:c.4133G>C | ENSP00000303830.4:p.Arg1378Pro | |
| ENST00000341500.9:c.4097G>C | ENSP00000342838.4:p.Arg1366Pro | |
| NM_000208.2:c.4133G>C | NP_000199.2:p.Arg1378Pro | |
| NM_000208.3:c.4133G>C | NP_000199.2:p.Arg1378Pro | |
| NM_001079817.1:c.4097G>C | NP_001073285.1:p.Arg1366Pro | |
| NM_001079817.2:c.4097G>C | NP_001073285.1:p.Arg1366Pro | |
| XM_011527988.1:c.4208G>C | XP_011526290.1:p.Arg1403Pro | |
| XM_011527989.1:c.4172G>C | XP_011526291.1:p.Arg1391Pro | |
| XM_011527988.2:c.4130G>C | XP_011526290.2:p.Arg1377Pro | |
| XM_011527989.3:c.4094G>C | XP_011526291.2:p.Arg1365Pro | |
| NM_000208.4:c.4133G>C MANE Select | NP_000199.2:p.Arg1378Pro | |
| NM_001079817.3:c.4097G>C | NP_001073285.1:p.Arg1366Pro |