Linked Data
ClinVar Variation Id:
1108511
ClinVar RCV Id:
RCV001433997
dbSNP Id:
rs1392523894
gnomAD v3:
8-31067176-T-C
gnomAD v4:
8-31067176-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067176T>C , CM000670.2:g.31067176T>C | GRCh38 |
| NC_000008.10:g.30924692T>C , CM000670.1:g.30924692T>C | GRCh37 |
| NC_000008.9:g.31044234T>C | NCBI36 |
| NG_008870.1:g.38915T>C , LRG_524:g.38915T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.648T>C MANE Select | ENSP00000298139.5:p.Asp216= | |
| ENST00000650667.1:c.*262T>C | ENSP00000498593.1:n.*262T>C | |
| ENST00000298139.5:c.648T>C | ENSP00000298139.5:p.Asp216= | |
| NM_000553.4:c.648T>C , LRG_524t1:c.648T>C | NP_000544.2:p.Asp216= | |
| XM_011544639.1:c.648T>C | XP_011542941.1:p.Asp216= | |
| XR_949470.1:n.921T>C | ||
| XR_949471.1:n.921T>C | ||
| XR_949472.1:n.921T>C | ||
| NM_000553.5:c.648T>C | NP_000544.2:p.Asp216= | |
| XM_011544639.3:c.648T>C | XP_011542941.1:p.Asp216= | |
| XM_024447265.1:c.438T>C | XP_024303033.1:p.Asp146= | |
| XR_949470.3:n.949T>C | ||
| XR_949471.3:n.949T>C | ||
| XR_949472.3:n.949T>C | ||
| NM_000553.6:c.648T>C MANE Select | NP_000544.2:p.Asp216= |