Linked Data
ClinVar Variation Id:
598361
ClinVar RCV Id:
RCV000734734
dbSNP Id:
rs777720719
ExAC:
6:143806300 T / G
gnomAD v2:
6-143806300-T-G
gnomAD v3:
6-143485163-T-G
gnomAD v4:
6-143485163-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485163T>G , CM000668.2:g.143485163T>G | GRCh38 |
| NC_000006.11:g.143806300T>G , CM000668.1:g.143806300T>G | GRCh37 |
| NC_000006.10:g.143847993T>G | NCBI36 |
| NG_008459.1:g.39383T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.953T>G MANE Select | ENSP00000356563.4:p.Val318Gly | |
| ENST00000367591.4:c.953T>G | ENSP00000356563.4:p.Val318Gly | |
| ENST00000585848.1:n.92T>G | ||
| NM_003630.2:c.953T>G | NP_003621.1:p.Val318Gly | |
| NM_003630.3:c.953T>G MANE Select | NP_003621.1:p.Val318Gly |