Linked Data
dbSNP Id:
rs768948990
ExAC:
17:39740107 C / G
gnomAD v2:
17-39740107-C-G
gnomAD v4:
17-41583855-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583855C>G , CM000679.2:g.41583855C>G | GRCh38 |
| NC_000017.10:g.39740107C>G , CM000679.1:g.39740107C>G | GRCh37 |
| NC_000017.9:g.36993633C>G | NCBI36 |
| NG_008624.1:g.8041G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.832G>C MANE Select | ENSP00000167586.6:p.Val278Leu | |
| ENST00000167586.6:c.832G>C | ENSP00000167586.6:p.Val278Leu | |
| ENST00000476662.1:n.282G>C | ||
| NM_000526.4:c.832G>C | NP_000517.2:p.Val278Leu | |
| NM_000526.5:c.832G>C MANE Select | NP_000517.3:p.Val278Leu |