gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000444 (AFR)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097619G>A , CM000682.2:g.6097619G>A | GRCh38 |
| NC_000020.10:g.6078266G>A , CM000682.1:g.6078266G>A | GRCh37 |
| NC_000020.9:g.6026266G>A | NCBI36 |
| NG_016213.1:g.30926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.862C>T | ENSP00000514127.1:p.Arg288Ter | |
| ENST00000699096.1:n.1324C>T | ||
| ENST00000699097.1:n.32C>T | ||
| ENST00000217289.9:c.862C>T MANE Select | ENSP00000217289.4:p.Arg288Ter | |
| ENST00000217289.8:c.862C>T | ENSP00000217289.4:p.Arg288Ter | |
| ENST00000536936.1:c.91C>T | ENSP00000441063.1:p.Arg31Ter | |
| NM_017671.4:c.862C>T | NP_060141.3:p.Arg288Ter | |
| XM_024451935.1:c.862C>T | XP_024307703.1:p.Arg288Ter | |
| NM_017671.5:c.862C>T MANE Select | NP_060141.3:p.Arg288Ter |