Linked Data
ClinVar Variation Id:
2831238
ClinVar RCV Id:
RCV003628208
dbSNP Id:
rs145352722
gnomAD v2:
11-46747497-T-C
gnomAD v4:
11-46725947-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725947T>C , CM000673.2:g.46725947T>C | GRCh38 |
| NC_000011.9:g.46747497T>C , CM000673.1:g.46747497T>C | GRCh37 |
| NC_000011.8:g.46704073T>C | NCBI36 |
| NG_008953.1:g.11755T>C , LRG_551:g.11755T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.648T>C MANE Select | ENSP00000308541.5:p.Asp216= | |
| ENST00000311907.9:c.648T>C | ENSP00000308541.5:p.Asp216= | |
| ENST00000442468.1:c.618T>C | ENSP00000387413.1:p.Asp206= | |
| ENST00000490274.1:n.428T>C | ||
| ENST00000530231.5:c.648T>C | ENSP00000433907.1:p.Asp216= | |
| NM_000506.3:c.648T>C | NP_000497.1:p.Asp216= | |
| NM_000506.4:c.648T>C , LRG_551t1:c.648T>C | NP_000497.1:p.Asp216= | |
| NM_001311257.1:c.600T>C | NP_001298186.1:p.Asp200= | |
| XR_428840.2:n.692T>C | ||
| XR_428840.4:n.683T>C | ||
| NM_000506.5:c.648T>C MANE Select | NP_000497.1:p.Asp216= | |
| NM_001311257.2:c.600T>C | NP_001298186.1:p.Asp200= |