Linked Data
ClinVar Variation Id:
16225
dbSNP Id:
rs121909671
gnomAD v2:
16-31202740-G-A
gnomAD v4:
16-31191419-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191419G>A , CM000678.2:g.31191419G>A | GRCh38 |
| NC_000016.9:g.31202740G>A , CM000678.1:g.31202740G>A | GRCh37 |
| NC_000016.8:g.31110241G>A | NCBI36 |
| NG_012889.2:g.16288G>A , LRG_655:g.16288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1562G>A MANE Select | ENSP00000254108.8:p.Arg521His | |
| ENST00000254108.11:c.1562G>A | ENSP00000254108.7:p.Arg521His | |
| ENST00000380244.7:c.1559G>A | ENSP00000369594.3:p.Arg520His | |
| ENST00000483853.1:n.639G>A | ||
| ENST00000487509.6:n.4737G>A | ||
| ENST00000566605.5:c.*735G>A | ENSP00000455073.1:n.*735G>A | |
| ENST00000568685.1:c.1565G>A | ENSP00000455282.1:p.Arg522His | |
| ENST00000569760.5:n.453G>A | ||
| NM_001170634.1:c.1559G>A | NP_001164105.1:p.Arg520His | |
| NM_001170937.1:c.1550G>A | NP_001164408.1:p.Arg517His | |
| NM_004960.3:c.1562G>A , LRG_655t1:c.1562G>A | NP_004951.1:p.Arg521His | |
| NR_028388.2:n.1632G>A | ||
| XM_005255233.3:c.947G>A | XP_005255290.1:p.Arg316His | |
| XM_011545781.1:c.1556G>A | XP_011544083.1:p.Arg519His | |
| XM_011545782.1:c.947G>A | XP_011544084.1:p.Arg316His | |
| XM_005255233.5:c.947G>A | XP_005255290.1:p.Arg316His | |
| XM_011545782.2:c.947G>A | XP_011544084.1:p.Arg316His | |
| XM_024450221.1:c.1553G>A | XP_024305989.1:p.Arg518His | |
| NM_004960.4:c.1562G>A MANE Select | NP_004951.1:p.Arg521His |