gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000255 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215019784G>A , CM000664.2:g.215019784G>A | GRCh38 |
| NC_000002.11:g.215884508G>A , CM000664.1:g.215884508G>A | GRCh37 |
| NC_000002.10:g.215592753G>A | NCBI36 |
| NG_007074.1:g.123644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1300C>T MANE Select | ENSP00000272895.7:p.Arg434Ter | |
| ENST00000272895.11:c.1300C>T | ENSP00000272895.7:p.Arg434Ter | |
| ENST00000389661.4:c.346C>T | ENSP00000374312.4:p.Arg116Ter | |
| NM_015657.3:c.346C>T | NP_056472.2:p.Arg116Ter | |
| NM_173076.2:c.1300C>T | NP_775099.2:p.Arg434Ter | |
| NR_103740.1:n.1544C>T | ||
| XM_011510951.1:c.1300C>T | XP_011509253.1:p.Arg434Ter | |
| XM_011510952.1:c.1300C>T | XP_011509254.1:p.Arg434Ter | |
| XM_011510951.2:c.1300C>T | XP_011509253.1:p.Arg434Ter | |
| NM_173076.3:c.1300C>T MANE Select | NP_775099.2:p.Arg434Ter | |
| NR_103740.2:n.1742C>T | ||
| NM_015657.4:c.346C>T | NP_056472.2:p.Arg116Ter |