Linked Data
dbSNP Id:
rs200733686
ExAC:
16:27373887 G / A
gnomAD v2:
16-27373887-G-A
gnomAD v3:
16-27362566-G-A
gnomAD v4:
16-27362566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27362566G>A , CM000678.2:g.27362566G>A | GRCh38 |
| NC_000016.9:g.27373887G>A , CM000678.1:g.27373887G>A | GRCh37 |
| NC_000016.8:g.27281388G>A | NCBI36 |
| NG_012086.1:g.53637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1214G>A MANE Select | ENSP00000379111.2:p.Arg405Gln | |
| ENST00000170630.6:c.1169G>A | ENSP00000170630.3:p.Arg390Gln | |
| ENST00000395762.6:c.1214G>A | ENSP00000379111.2:p.Arg405Gln | |
| ENST00000543915.6:c.1214G>A | ENSP00000441667.2:p.Arg405Gln | |
| ENST00000565352.1:c.230-1537G>A | ENSP00000461268.1:n.230-1537G>A | |
| ENST00000568746.5:c.*1257G>A | ENSP00000455714.1:n.*1257G>A | |
| NM_000418.3:c.1214G>A | NP_000409.1:p.Arg405Gln | |
| NM_001257406.1:c.1214G>A | NP_001244335.1:p.Arg405Gln | |
| NM_001257407.1:c.1169G>A | NP_001244336.1:p.Arg390Gln | |
| NM_001257997.1:c.734G>A | NP_001244926.1:p.Arg245Gln | |
| XM_005255308.2:c.323G>A | XP_005255365.1:p.Arg108Gln | |
| XM_006721043.1:c.263G>A | XP_006721106.1:p.Arg88Gln | |
| XM_011545825.1:c.1214G>A | XP_011544127.1:p.Arg405Gln | |
| XM_011545826.1:c.1214G>A | XP_011544128.1:p.Arg405Gln | |
| XM_011545827.1:c.1214G>A | XP_011544129.1:p.Arg405Gln | |
| XM_011545828.1:c.947G>A | XP_011544130.1:p.Arg316Gln | |
| XM_011545829.1:c.917G>A | XP_011544131.1:p.Arg306Gln | |
| XM_011545830.1:c.917G>A | XP_011544132.1:p.Arg306Gln | |
| XM_011545831.1:c.917G>A | XP_011544133.1:p.Arg306Gln | |
| XM_011545832.1:c.917G>A | XP_011544134.1:p.Arg306Gln | |
| XM_011545833.1:c.917G>A | XP_011544135.1:p.Arg306Gln | |
| XM_011545834.1:c.791G>A | XP_011544136.1:p.Arg264Gln | |
| XM_011545826.2:c.1214G>A | XP_011544128.1:p.Arg405Gln | |
| XM_011545827.2:c.1214G>A | XP_011544129.1:p.Arg405Gln | |
| XM_011545828.2:c.947G>A | XP_011544130.1:p.Arg316Gln | |
| XM_011545830.2:c.917G>A | XP_011544132.1:p.Arg306Gln | |
| XM_011545833.2:c.917G>A | XP_011544135.1:p.Arg306Gln | |
| XM_011545834.2:c.791G>A | XP_011544136.1:p.Arg264Gln | |
| XM_017023211.1:c.*249G>A | XP_016878700.1:n.*249G>A | |
| NM_000418.4:c.1214G>A MANE Select | NP_000409.1:p.Arg405Gln | |
| NM_001257406.2:c.1214G>A | NP_001244335.1:p.Arg405Gln | |
| NM_001257407.2:c.1169G>A | NP_001244336.1:p.Arg390Gln | |
| NM_001257997.2:c.734G>A | NP_001244926.1:p.Arg245Gln |