gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00086587 (AFR)
Genomes Max Group AF
0.00093793 (AFR)
Exomes Max Group AF
0.00061949 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94409794C>T , CM000669.2:g.94409794C>T | GRCh38 |
| NC_000007.13:g.94039106C>T , CM000669.1:g.94039106C>T | GRCh37 |
| NC_000007.12:g.93877042C>T | NCBI36 |
| NG_007405.1:g.20234C>T , LRG_2:g.20234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1008C>T MANE Select | ENSP00000297268.6:p.Ala336= | |
| ENST00000297268.10:c.1008C>T | ENSP00000297268.6:p.Ala336= | |
| ENST00000620463.1:c.1002C>T | ENSP00000477719.1:p.Ala334= | |
| NM_000089.3:c.1008C>T , LRG_2t1:c.1008C>T | NP_000080.2:p.Ala336= | |
| NM_000089.4:c.1008C>T MANE Select | NP_000080.2:p.Ala336= |