Linked Data
dbSNP Id:
rs533009428
ExAC:
16:88876550 G / C
gnomAD v2:
16-88876550-G-C
gnomAD v3:
16-88810142-G-C
gnomAD v4:
16-88810142-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810142G>C , CM000678.2:g.88810142G>C | GRCh38 |
| NC_000016.9:g.88876550G>C , CM000678.1:g.88876550G>C | GRCh37 |
| NC_000016.8:g.87404051G>C | NCBI36 |
| NG_008013.1:g.6793C>G | |
| NG_028266.1:g.11365G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.328C>G MANE Select | ENSP00000367615.3:p.Leu110Val | |
| ENST00000378364.7:c.328C>G | ENSP00000367615.3:p.Leu110Val | |
| ENST00000426324.6:c.328C>G | ENSP00000397007.2:p.Leu110Val | |
| ENST00000562464.1:n.338C>G | ||
| ENST00000563655.5:c.247C>G | ENSP00000456012.1:p.Leu83Val | |
| ENST00000567057.5:n.127C>G | ||
| ENST00000567391.5:c.*2C>G | ENSP00000457964.1:n.*2C>G | |
| ENST00000567713.5:c.321+281C>G | ENSP00000455749.1:n.321+281C>G | |
| ENST00000568319.5:c.*2C>G | ENSP00000456905.1:n.*2C>G | |
| ENST00000568575.1:n.257C>G | ||
| ENST00000569616.1:c.326C>G | ||
| NM_000485.2:c.328C>G | NP_000476.1:p.Leu110Val | |
| NM_001030018.1:c.328C>G | NP_001025189.1:p.Leu110Val | |
| NM_000485.3:c.328C>G MANE Select | NP_000476.1:p.Leu110Val | |
| NM_001030018.2:c.328C>G | NP_001025189.1:p.Leu110Val |