gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Genomes Max Group AF
0.00005287 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61840001G>A , CM000664.2:g.61840001G>A | GRCh38 |
| NC_000002.11:g.62067136G>A , CM000664.1:g.62067136G>A | GRCh37 |
| NC_000002.10:g.61920640G>A | NCBI36 |
| NG_028125.1:g.19143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1003C>T MANE Select | ENSP00000385158.1:p.Arg335Ter | |
| ENST00000307507.3:c.*1013C>T | ENSP00000303170.3:n.*1013C>T | |
| ENST00000404929.5:c.1003C>T | ENSP00000385158.1:p.Arg335Ter | |
| ENST00000405894.3:c.1003C>T | ENSP00000385893.3:p.Arg335Ter | |
| ENST00000418113.5:c.990C>T | ||
| ENST00000456262.5:c.*518C>T | ENSP00000396105.1:n.*518C>T | |
| NM_001201543.1:c.1003C>T | NP_001188472.1:p.Arg335Ter | |
| NM_032180.2:c.1003C>T | NP_115556.2:p.Arg335Ter | |
| NR_037710.1:n.1049C>T | ||
| XR_939724.1:n.2364C>T | ||
| XM_017005072.1:c.676C>T | XP_016860561.1:p.Arg226Ter | |
| XM_017005073.1:c.433C>T | XP_016860562.1:p.Arg145Ter | |
| XM_017005074.1:c.433C>T | XP_016860563.1:p.Arg145Ter | |
| XR_001738972.2:n.1004C>T | ||
| XR_001738973.2:n.1004C>T | ||
| XR_001738974.2:n.1004C>T | ||
| XR_001738975.2:n.1004C>T | ||
| XR_001738976.1:n.1032C>T | ||
| XR_001738977.1:n.1032C>T | ||
| NM_001201543.2:c.1003C>T MANE Select | NP_001188472.1:p.Arg335Ter | |
| NM_032180.3:c.1003C>T | NP_115556.2:p.Arg335Ter | |
| NR_037710.2:n.966C>T |