ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002932 (NFE)
Exomes Max Group AF
0.00003026 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50286635C>A , CM000681.2:g.50286635C>A | GRCh38 |
| NC_000019.9:g.50789892C>A , CM000681.1:g.50789892C>A | GRCh37 |
| NC_000019.8:g.55481704C>A | NCBI36 |
| NG_011645.1:g.88008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425460.6:c.4594C>A | ENSP00000407879.1:p.Arg1532= | |
| ENST00000642316.2:c.4693C>A MANE Select | ENSP00000493594.1:p.Arg1565= | |
| ENST00000262269.12:c.*54C>A | ENSP00000262269.9:n.*54C>A | |
| ENST00000376970.6:c.4570C>A | ENSP00000366169.3:p.Arg1524= | |
| ENST00000425460.5:c.4594C>A | ENSP00000407879.1:p.Arg1532= | |
| ENST00000440075.6:c.499C>A | ENSP00000406273.3:p.Arg167= | |
| ENST00000595016.1:n.1872C>A | ||
| ENST00000596571.5:c.4570C>A | ENSP00000472819.1:p.Arg1524= | |
| ENST00000598205.5:c.4594C>A | ENSP00000472543.1:p.Arg1532= | |
| ENST00000601313.5:c.4693C>A | ENSP00000470298.1:p.Arg1565= | |
| NM_001077186.1:c.4594C>A | NP_001070654.1:p.Arg1532= | |
| NM_001145809.1:c.4693C>A | NP_001139281.1:p.Arg1565= | |
| NM_024729.3:c.4570C>A | NP_079005.3:p.Arg1524= | |
| XM_006723386.2:c.4594C>A | XP_006723449.1:p.Arg1532= | |
| XM_011527320.1:c.4714C>A | XP_011525622.1:p.Arg1572= | |
| XM_011527321.1:c.4690C>A | XP_011525623.1:p.Arg1564= | |
| XM_011527322.1:c.4618C>A | XP_011525624.1:p.Arg1540= | |
| XM_011527323.1:c.4594C>A | XP_011525625.1:p.Arg1532= | |
| XM_006723386.4:c.4594C>A | XP_006723449.1:p.Arg1532= | |
| XM_011527320.2:c.4714C>A | XP_011525622.1:p.Arg1572= | |
| XM_011527321.2:c.4690C>A | XP_011525623.1:p.Arg1564= | |
| XM_011527323.2:c.4594C>A | XP_011525625.1:p.Arg1532= | |
| XM_024451721.1:c.4570C>A | XP_024307489.1:p.Arg1524= | |
| NM_001077186.2:c.4594C>A | NP_001070654.1:p.Arg1532= | |
| NM_001145809.2:c.4693C>A MANE Select | NP_001139281.1:p.Arg1565= | |
| NM_024729.4:c.4570C>A | NP_079005.3:p.Arg1524= |