MyVariant.info:
GRCh38
chr19:g.55000769C>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71881862 (AMR)
Genomes Max Group AF
0.68936079 (EAS)
Exomes Max Group AF
0.73946681 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55000769C>A , CM000681.2:g.55000769C>A | GRCh38 |
| NC_000019.8:g.60203949C>A | NCBI36 |
| NG_052633.1:g.52640C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448584.7:c.3060C>A MANE Select | ENSP00000409370.2:p.Ile1020= | |
| ENST00000263437.10:c.3051C>A | ENSP00000263437.6:p.Ile1017= | |
| ENST00000339757.11:c.2994C>A | ENSP00000344074.7:p.Ile998= | |
| ENST00000391721.8:c.2988C>A | ENSP00000375601.4:p.Ile996= | |
| ENST00000427260.6:c.2991C>A | ENSP00000402474.2:p.Ile997= | |
| ENST00000448584.6:c.3060C>A | ENSP00000409370.2:p.Ile1020= | |
| ENST00000537859.5:c.2994C>A | ENSP00000440601.1:p.Ile998= | |
| ENST00000540597.5:n.3371C>A | ||
| ENST00000542755.1:n.1403C>A | ||
| ENST00000543010.5:c.3060C>A | ENSP00000445135.1:p.Ile1020= | |
| NM_001174081.1:c.3060C>A | NP_001167552.1:p.Ile1020= | |
| NM_001174082.1:c.2994C>A | NP_001167553.1:p.Ile998= | |
| NM_001174083.1:c.2991C>A | NP_001167554.1:p.Ile997= | |
| NM_017852.3:c.3060C>A | NP_060322.1:p.Ile1020= | |
| NM_001174081.2:c.3060C>A | NP_001167552.1:p.Ile1020= | |
| NM_001174082.2:c.2994C>A | NP_001167553.1:p.Ile998= | |
| NM_001348003.1:c.3051C>A | NP_001334932.1:p.Ile1017= | |
| NM_017852.4:c.3060C>A | NP_060322.1:p.Ile1020= | |
| NR_145325.1:n.3404C>A | ||
| NM_017852.5:c.3060C>A MANE Select | NP_060322.1:p.Ile1020= | |
| NM_001174081.3:c.3060C>A | NP_001167552.1:p.Ile1020= | |
| NM_001174083.2:c.2991C>A | NP_001167554.1:p.Ile997= | |
| NM_001348003.2:c.3051C>A | NP_001334932.1:p.Ile1017= | |
| NR_145325.2:n.3372C>A | ||
| NM_001174082.3:c.2994C>A | NP_001167553.1:p.Ile998= |