dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000258 (NFE)
Exomes Max Group AF
0.00000203 (NFE)
Revel Score:
ENST00000441551
0.114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46563166G>T , CM000680.2:g.46563166G>T | GRCh38 |
| NC_000018.9:g.44143129G>T , CM000680.1:g.44143129G>T | GRCh37 |
| NC_000018.8:g.42397127G>T | NCBI36 |
| NG_016646.1:g.98868C>A | |
| NG_016646.2:g.98868C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.2497C>A MANE Select | ENSP00000496347.1:p.Arg833= | |
| ENST00000335730.6:n.1810C>A | ||
| ENST00000441551.6:c.2497C>A | ENSP00000387621.2:p.Arg833= | |
| ENST00000536736.5:c.2497C>A | ENSP00000444586.1:p.Arg833= | |
| NM_144612.6:c.2497C>A | NP_653213.6:p.Arg833= | |
| XM_011525803.1:c.2497C>A | XP_011524105.1:p.Arg833= | |
| XM_011525804.1:c.658C>A | XP_011524106.1:p.Arg220= | |
| XM_011525804.2:c.658C>A | XP_011524106.1:p.Arg220= | |
| XM_017025548.1:c.2497C>A | XP_016881037.1:p.Arg833= | |
| XM_024451084.1:c.979C>A | XP_024306852.1:p.Arg327= | |
| NM_001384474.1:c.2497C>A MANE Select | NP_001371403.1:p.Arg833= | |
| NM_144612.7:c.2497C>A | NP_653213.6:p.Arg833= |