Linked Data
ClinVar Variation Id:
2061656
ClinVar RCV Id:
RCV002942893
dbSNP Id:
rs917979460
gnomAD v2:
1-120458127-A-G
gnomAD v3:
1-119915504-A-G
gnomAD v4:
1-119915504-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915504A>G , CM000663.2:g.119915504A>G | GRCh38 |
| NC_000001.10:g.120458127A>G , CM000663.1:g.120458127A>G | GRCh37 |
| NC_000001.9:g.120259650A>G | NCBI36 |
| NG_008163.1:g.159150T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.7218T>C MANE Select | ENSP00000256646.2:p.Gly2406= | |
| ENST00000256646.6:c.7218T>C | ENSP00000256646.2:p.Gly2406= | |
| NM_024408.3:c.7218T>C | NP_077719.2:p.Gly2406= | |
| XM_005270901.2:c.7101T>C | XP_005270958.1:p.Gly2367= | |
| XM_011541519.1:c.7206T>C | XP_011539821.1:p.Gly2402= | |
| XM_011541520.1:c.7101T>C | XP_011539822.1:p.Gly2367= | |
| NM_024408.4:c.7218T>C MANE Select | NP_077719.2:p.Gly2406= |