gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000547 (NFE)
Exomes Max Group AF
0.00000581 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149576443G>A , CM000664.2:g.149576443G>A | GRCh38 |
| NC_000002.11:g.150432957G>A , CM000664.1:g.150432957G>A | GRCh37 |
| NC_000002.10:g.150141203G>A | NCBI36 |
| NG_009189.1:g.16374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.472C>T MANE Select | ENSP00000301920.5:p.Arg158Ter | |
| ENST00000303319.9:c.472C>T | ENSP00000301920.5:p.Arg158Ter | |
| ENST00000422782.2:c.472C>T | ENSP00000408331.2:p.Arg158Ter | |
| ENST00000428879.5:c.472C>T | ENSP00000389060.1:p.Arg158Ter | |
| NM_015702.2:c.472C>T | NP_056517.1:p.Arg158Ter | |
| NM_015702.3:c.472C>T MANE Select | NP_056517.1:p.Arg158Ter |