gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761171G>A , CM000674.2:g.101761171G>A | GRCh38 |
| NC_000012.11:g.102154949G>A , CM000674.1:g.102154949G>A | GRCh37 |
| NC_000012.10:g.100679080G>A | NCBI36 |
| NG_021243.1:g.74697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3091C>T MANE Select | ENSP00000299314.7:p.Arg1031Ter | |
| ENST00000299314.11:c.3091C>T | ENSP00000299314.7:p.Arg1031Ter | |
| NM_024312.4:c.3091C>T | NP_077288.2:p.Arg1031Ter | |
| XM_006719593.2:c.3091C>T | XP_006719656.1:p.Arg1031Ter | |
| XM_011538731.1:c.3010C>T | XP_011537033.1:p.Arg1004Ter | |
| XM_006719593.3:c.3091C>T | XP_006719656.1:p.Arg1031Ter | |
| XM_011538731.2:c.3010C>T | XP_011537033.1:p.Arg1004Ter | |
| XM_017019961.1:c.2875C>T | XP_016875450.1:p.Arg959Ter | |
| XM_017019962.2:c.1864C>T | XP_016875451.1:p.Arg622Ter | |
| NM_024312.5:c.3091C>T MANE Select | NP_077288.2:p.Arg1031Ter |