gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150509696C>T , CM000663.2:g.150509696C>T | GRCh38 |
| NC_000001.10:g.150482172C>T , CM000663.1:g.150482172C>T | GRCh37 |
| NC_000001.9:g.148748796C>T | NCBI36 |
| NG_012062.1:g.6686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369047.9:c.157C>T MANE Select | ENSP00000358043.4:p.Arg53Ter | |
| ENST00000346569.6:c.157C>T | ENSP00000271630.6:p.Arg53Ter | |
| ENST00000369047.8:c.157C>T | ENSP00000358043.4:p.Arg53Ter | |
| ENST00000369049.8:c.157C>T | ENSP00000358045.4:p.Arg53Ter | |
| ENST00000470432.5:n.305C>T | ||
| ENST00000490346.1:n.145C>T | ||
| ENST00000496744.5:n.273C>T | ||
| ENST00000498579.5:n.285C>T | ||
| NM_001202858.1:c.157C>T | NP_001189787.1:p.Arg53Ter | |
| NM_004425.3:c.157C>T | NP_004416.2:p.Arg53Ter | |
| NM_022664.2:c.157C>T | NP_073155.2:p.Arg53Ter | |
| XR_922130.1:n.652+522G>A | ||
| NM_004425.4:c.157C>T MANE Select | NP_004416.2:p.Arg53Ter | |
| NM_001202858.2:c.157C>T | NP_001189787.1:p.Arg53Ter | |
| NM_022664.3:c.157C>T | NP_073155.2:p.Arg53Ter |