Linked Data
dbSNP Id:
rs775264960
ExAC:
17:7357731 C / G
gnomAD v2:
17-7357731-C-G
gnomAD v4:
17-7454412-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454412C>G , CM000679.2:g.7454412C>G | GRCh38 |
| NC_000017.10:g.7357731C>G , CM000679.1:g.7357731C>G | GRCh37 |
| NC_000017.9:g.7298455C>G | NCBI36 |
| NG_008026.1:g.14326C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.936C>G MANE Select | ENSP00000304290.2:p.Leu312= | |
| ENST00000306071.6:c.936C>G | ENSP00000304290.2:p.Leu312= | |
| ENST00000536404.6:c.720C>G | ENSP00000439209.2:p.Leu240= | |
| ENST00000570557.5:c.599C>G | ||
| ENST00000573209.1:n.1880C>G | ||
| ENST00000576360.1:c.605-32C>G | ENSP00000459092.1:n.605-32C>G | |
| NM_000747.2:c.936C>G | NP_000738.2:p.Leu312= | |
| NM_000747.3:c.936C>G MANE Select | NP_000738.2:p.Leu312= |