Linked Data
dbSNP Id:
rs745472071
ExAC:
16:31473959 G / A
gnomAD v2:
16-31473959-G-A
gnomAD v3:
16-31462638-G-A
gnomAD v4:
16-31462638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462638G>A , CM000678.2:g.31462638G>A | GRCh38 |
| NC_000016.9:g.31473959G>A , CM000678.1:g.31473959G>A | GRCh37 |
| NC_000016.8:g.31381460G>A | NCBI36 |
| NG_034258.1:g.9366G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.1091G>A MANE Select | ENSP00000268314.4:p.Arg364Gln | |
| ENST00000268314.8:c.1091G>A | ENSP00000268314.4:p.Arg364Gln | |
| ENST00000408912.7:c.1376G>A | ENSP00000386125.3:p.Arg459Gln | |
| ENST00000457010.6:c.1091G>A | ENSP00000399561.2:p.Arg364Gln | |
| ENST00000538189.5:c.599G>A | ENSP00000443995.2:p.Arg200Gln | |
| ENST00000563544.5:c.1091G>A | ENSP00000456877.1:p.Arg364Gln | |
| ENST00000564900.1:c.213-134G>A | ||
| NM_001105247.1:c.1091G>A | NP_001098717.1:p.Arg364Gln | |
| NM_001288767.1:c.1376G>A | NP_001275696.1:p.Arg459Gln | |
| NM_001301820.1:c.1187G>A | NP_001288749.1:p.Arg396Gln | |
| NM_024742.2:c.1091G>A | NP_079018.1:p.Arg364Gln | |
| XM_006721091.1:c.1187G>A | XP_006721154.1:p.Arg396Gln | |
| XM_006721091.3:c.1187G>A | XP_006721154.1:p.Arg396Gln | |
| XM_024450448.1:c.1187G>A | XP_024306216.1:p.Arg396Gln | |
| XM_024450449.1:c.1187G>A | XP_024306217.1:p.Arg396Gln | |
| NM_001105247.2:c.1091G>A MANE Select | NP_001098717.1:p.Arg364Gln | |
| NM_001288767.2:c.1376G>A | NP_001275696.1:p.Arg459Gln |