Linked Data
dbSNP Id:
rs559703047
ExAC:
16:16110375 G / A
gnomAD v2:
16-16110375-G-A
gnomAD v3:
16-16016518-G-A
gnomAD v4:
16-16016518-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16016518G>A , CM000678.2:g.16016518G>A | GRCh38 |
| NC_000016.9:g.16110375G>A , CM000678.1:g.16110375G>A | GRCh37 |
| NC_000016.8:g.16017876G>A | NCBI36 |
| NG_028268.1:g.71942G>A | |
| NG_028268.2:g.71942G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.512G>A | ENSP00000382340.4:p.Arg171His | |
| ENST00000399410.8:c.512G>A MANE Select | ENSP00000382342.3:p.Arg171His | |
| ENST00000572882.3:c.512G>A | ENSP00000461615.2:p.Arg171His | |
| ENST00000574224.2:n.587G>A | ||
| ENST00000677164.1:c.489+1890G>A | ENSP00000502873.1:n.489+1890G>A | |
| ENST00000678422.1:c.512G>A | ENSP00000503954.1:p.Arg171His | |
| ENST00000679043.1:n.464G>A | ||
| ENST00000399408.6:c.-467G>A | ENSP00000382340.3:n.-467G>A | |
| ENST00000399410.7:c.512G>A | ENSP00000382342.3:p.Arg171His | |
| ENST00000572882.2:c.207G>A | ||
| ENST00000574224.1:n.112G>A | ||
| NM_004996.3:c.512G>A | NP_004987.2:p.Arg171His | |
| XM_011522497.1:c.488G>A | XP_011520799.1:p.Arg163His | |
| XM_011522498.1:c.566G>A | XP_011520800.1:p.Arg189His | |
| XM_011522498.2:c.566G>A | XP_011520800.1:p.Arg189His | |
| XM_017023237.1:c.566G>A | XP_016878726.1:p.Arg189His | |
| XM_017023238.1:c.543+1890G>A | XP_016878727.1:n.543+1890G>A | |
| XM_017023239.1:c.428G>A | XP_016878728.1:p.Arg143His | |
| XM_017023240.1:c.566G>A | XP_016878729.1:p.Arg189His | |
| XM_017023241.1:c.405+6617G>A | XP_016878730.1:n.405+6617G>A | |
| XM_017023242.1:c.566G>A | XP_016878731.1:p.Arg189His | |
| XM_017023243.2:c.566G>A | XP_016878732.1:p.Arg189His | |
| NM_004996.4:c.512G>A MANE Select | NP_004987.2:p.Arg171His |