Linked Data
dbSNP Id:
rs151240811
ExAC:
16:88876537 T / G
gnomAD v2:
16-88876537-T-G
gnomAD v3:
16-88810129-T-G
gnomAD v4:
16-88810129-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810129T>G , CM000678.2:g.88810129T>G | GRCh38 |
| NC_000016.9:g.88876537T>G , CM000678.1:g.88876537T>G | GRCh37 |
| NC_000016.8:g.87404038T>G | NCBI36 |
| NG_008013.1:g.6806A>C | |
| NG_028266.1:g.11352T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.341A>C MANE Select | ENSP00000367615.3:p.Lys114Thr | |
| ENST00000378364.7:c.341A>C | ENSP00000367615.3:p.Lys114Thr | |
| ENST00000426324.6:c.341A>C | ENSP00000397007.2:p.Lys114Thr | |
| ENST00000562464.1:n.351A>C | ||
| ENST00000563655.5:c.260A>C | ENSP00000456012.1:p.Lys87Thr | |
| ENST00000567057.5:n.140A>C | ||
| ENST00000567391.5:c.*15A>C | ENSP00000457964.1:n.*15A>C | |
| ENST00000567713.5:c.321+294A>C | ENSP00000455749.1:n.321+294A>C | |
| ENST00000568319.5:c.*15A>C | ENSP00000456905.1:n.*15A>C | |
| ENST00000568575.1:n.270A>C | ||
| ENST00000569616.1:c.339A>C | ||
| NM_000485.2:c.341A>C | NP_000476.1:p.Lys114Thr | |
| NM_001030018.1:c.341A>C | NP_001025189.1:p.Lys114Thr | |
| NM_000485.3:c.341A>C MANE Select | NP_000476.1:p.Lys114Thr | |
| NM_001030018.2:c.341A>C | NP_001025189.1:p.Lys114Thr |