Linked Data
dbSNP Id:
rs750053169
ExAC:
16:88876548 C / T
gnomAD v2:
16-88876548-C-T
gnomAD v4:
16-88810140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810140C>T , CM000678.2:g.88810140C>T | GRCh38 |
| NC_000016.9:g.88876548C>T , CM000678.1:g.88876548C>T | GRCh37 |
| NC_000016.8:g.87404049C>T | NCBI36 |
| NG_008013.1:g.6795G>A | |
| NG_028266.1:g.11363C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.330G>A MANE Select | ENSP00000367615.3:p.Leu110= | |
| ENST00000378364.7:c.330G>A | ENSP00000367615.3:p.Leu110= | |
| ENST00000426324.6:c.330G>A | ENSP00000397007.2:p.Leu110= | |
| ENST00000562464.1:n.340G>A | ||
| ENST00000563655.5:c.249G>A | ENSP00000456012.1:p.Leu83= | |
| ENST00000567057.5:n.129G>A | ||
| ENST00000567391.5:c.*4G>A | ENSP00000457964.1:n.*4G>A | |
| ENST00000567713.5:c.321+283G>A | ENSP00000455749.1:n.321+283G>A | |
| ENST00000568319.5:c.*4G>A | ENSP00000456905.1:n.*4G>A | |
| ENST00000568575.1:n.259G>A | ||
| ENST00000569616.1:c.328G>A | ||
| NM_000485.2:c.330G>A | NP_000476.1:p.Leu110= | |
| NM_001030018.1:c.330G>A | NP_001025189.1:p.Leu110= | |
| NM_000485.3:c.330G>A MANE Select | NP_000476.1:p.Leu110= | |
| NM_001030018.2:c.330G>A | NP_001025189.1:p.Leu110= |