Linked Data
ClinVar Variation Id:
142011
dbSNP Id:
rs587776399
ExAC:
16:68844220 T / G
gnomAD v2:
16-68844220-T-G
gnomAD v3:
16-68810317-T-G
gnomAD v4:
16-68810317-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68810317T>G , CM000678.2:g.68810317T>G | GRCh38 |
| NC_000016.9:g.68844220T>G , CM000678.1:g.68844220T>G | GRCh37 |
| NC_000016.8:g.67401721T>G | NCBI36 |
| NG_008021.1:g.78026T>G , LRG_301:g.78026T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.808T>G MANE Select | ENSP00000261769.4:p.Ser270Ala | |
| ENST00000261769.9:c.808T>G | ENSP00000261769.4:p.Ser270Ala | |
| ENST00000422392.6:c.808T>G | ENSP00000414946.2:p.Ser270Ala | |
| ENST00000561751.1:c.455-1367T>G | ||
| ENST00000562836.5:n.879T>G | ||
| ENST00000566510.5:c.652T>G | ENSP00000458139.1:p.Ser218Ala | |
| ENST00000566612.5:c.808T>G | ENSP00000454782.1:p.Ser270Ala | |
| ENST00000611625.4:c.808T>G | ENSP00000481063.1:p.Ser270Ala | |
| ENST00000612417.4:c.808T>G | ENSP00000478360.1:p.Ser270Ala | |
| ENST00000621016.4:c.808T>G | ENSP00000480664.1:p.Ser270Ala | |
| NM_004360.3:c.808T>G , LRG_301t1:c.808T>G | NP_004351.1:p.Ser270Ala | |
| XM_011523488.1:c.73T>G | XP_011521790.1:p.Ser25Ala | |
| XM_011523489.1:c.73T>G | XP_011521791.1:p.Ser25Ala | |
| NM_001317184.1:c.808T>G | NP_001304113.1:p.Ser270Ala | |
| NM_001317185.1:c.-808T>G | NP_001304114.1:n.-808T>G | |
| NM_001317186.1:c.-1012T>G | NP_001304115.1:n.-1012T>G | |
| NM_004360.4:c.808T>G | NP_004351.1:p.Ser270Ala | |
| NM_004360.5:c.808T>G MANE Select | NP_004351.1:p.Ser270Ala | |
| NM_001317184.2:c.808T>G | NP_001304113.1:p.Ser270Ala | |
| NM_001317185.2:c.-808T>G | NP_001304114.1:n.-808T>G | |
| NM_001317186.2:c.-1012T>G | NP_001304115.1:n.-1012T>G |