Linked Data
ClinVar Variation Id:
891429
ClinVar RCV Id:
RCV001126720
dbSNP Id:
rs201002055
gnomAD v4:
17-30197688-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30197688A>G , CM000679.2:g.30197688A>G | GRCh38 |
| NC_000017.10:g.28524706A>G , CM000679.1:g.28524706A>G | GRCh37 |
| NC_000017.9:g.25548832A>G | NCBI36 |
| NG_011747.2:g.43249T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.*768T>C MANE Select | ENSP00000498537.1:n.*768T>C | |
| ENST00000261707.7:c.*768T>C | ENSP00000261707.3:n.*768T>C | |
| ENST00000401766.6:c.*768T>C | ENSP00000385822.2:n.*768T>C | |
| NM_001045.5:c.*768T>C | NP_001036.1:n.*768T>C | |
| NM_001045.6:c.*768T>C MANE Select | NP_001036.1:n.*768T>C |