gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001145 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30086847G>A , CM000678.2:g.30086847G>A | GRCh38 |
| NC_000016.9:g.30098168G>A , CM000678.1:g.30098168G>A | GRCh37 |
| NC_000016.8:g.30005669G>A | NCBI36 |
| NG_023283.1:g.10038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395224.7:c.844C>T MANE Select | ENSP00000378650.2:p.Arg282Ter | |
| ENST00000279386.6:c.844C>T | ENSP00000279386.2:p.Arg282Ter | |
| ENST00000395224.6:c.844C>T | ENSP00000378650.2:p.Arg282Ter | |
| ENST00000567664.5:c.*48-152C>T | ENSP00000460425.1:n.*48-152C>T | |
| ENST00000627355.2:c.844C>T | ENSP00000485762.1:p.Arg282Ter | |
| NM_004608.3:c.844C>T | NP_004599.2:p.Arg282Ter | |
| XM_005255523.1:c.844C>T | XP_005255580.1:p.Arg282Ter | |
| XM_011545926.1:c.844C>T | XP_011544228.1:p.Arg282Ter | |
| XR_950840.1:n.1686C>T | ||
| XM_005255523.2:c.844C>T | XP_005255580.1:p.Arg282Ter | |
| XM_011545926.3:c.844C>T | XP_011544228.1:p.Arg282Ter | |
| XM_017023614.1:c.844C>T | XP_016879103.1:p.Arg282Ter | |
| XR_950840.3:n.1676C>T | ||
| NM_004608.4:c.844C>T MANE Select | NP_004599.2:p.Arg282Ter |