gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00149075 (AFR)
Genomes Max Group AF
0.00154218 (AFR)
Exomes Max Group AF
0.00121721 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351924C>T , CM000669.2:g.143351924C>T | GRCh38 |
| NC_000007.13:g.143049017C>T , CM000669.1:g.143049017C>T | GRCh37 |
| NC_000007.12:g.142759139C>T | NCBI36 |
| NG_009815.1:g.40799C>T | |
| NG_009815.2:g.40799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2926C>T | ENSP00000498052.2:p.Arg976Ter | |
| ENST00000343257.7:c.2926C>T MANE Select | ENSP00000339867.2:p.Arg976Ter | |
| ENST00000343257.6:c.2926C>T | ENSP00000339867.2:p.Arg976Ter | |
| NM_000083.2:c.2926C>T | NP_000074.2:p.Arg976Ter | |
| NR_046453.1:n.2866C>T | ||
| XM_011515781.1:c.2950C>T | XP_011514083.1:p.Arg984Ter | |
| XM_011515782.1:c.1672C>T | XP_011514084.1:p.Arg558Ter | |
| XM_011515782.2:c.1672C>T | XP_011514084.1:p.Arg558Ter | |
| XM_017011739.1:c.2500C>T | XP_016867228.1:p.Arg834Ter | |
| XM_017011740.1:c.2476C>T | XP_016867229.1:p.Arg826Ter | |
| NM_000083.3:c.2926C>T MANE Select | NP_000074.3:p.Arg976Ter | |
| NR_046453.2:n.2881C>T |