gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42965712G>A , CM000668.2:g.42965712G>A | GRCh38 |
| NC_000006.11:g.42933450G>A , CM000668.1:g.42933450G>A | GRCh37 |
| NC_000006.10:g.43041428G>A | NCBI36 |
| NG_008370.1:g.18532C>T | |
| NG_008396.1:g.9951G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2440C>T MANE Select | ENSP00000303511.8:p.Arg814Ter | |
| ENST00000244546.4:c.2193C>T | ENSP00000244546.4:p.Gly731= | |
| ENST00000304611.12:c.2440C>T | ENSP00000303511.8:p.Arg814Ter | |
| NM_000287.3:c.2440C>T | NP_000278.3:p.Arg814Ter | |
| NM_001316313.1:c.2176C>T | NP_001303242.1:p.Arg726Ter | |
| NR_133009.1:n.2286C>T | ||
| XM_011514661.1:c.2356C>T | XP_011512963.1:p.Arg786Ter | |
| XM_011514661.2:c.2356C>T | XP_011512963.1:p.Arg786Ter | |
| XR_001743466.2:n.3402C>T | ||
| NM_000287.4:c.2440C>T MANE Select | NP_000278.3:p.Arg814Ter | |
| NM_001316313.2:c.2176C>T | NP_001303242.1:p.Arg726Ter | |
| NR_133009.2:n.2224C>T |