gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010238 (AFR)
Genomes Max Group AF
0.00011246 (AFR)
Exomes Max Group AF
0.00003983 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587593C>T , CM000673.2:g.2587593C>T | GRCh38 |
| NC_000011.9:g.2608823C>T , CM000673.1:g.2608823C>T | GRCh37 |
| NC_000011.8:g.2565399C>T | NCBI36 |
| NG_008935.1:g.147603C>T , LRG_287:g.147603C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.795C>T | ENSP00000434560.2:p.Ala265= | |
| ENST00000646564.2:c.612C>T | ENSP00000495806.2:p.Ala204= | |
| ENST00000155840.12:c.1152C>T MANE Select | ENSP00000155840.2:p.Ala384= | |
| ENST00000335475.6:c.771C>T | ENSP00000334497.5:p.Ala257= | |
| ENST00000646564.1:c.258C>T | ENSP00000495806.1:p.Ala86= | |
| ENST00000155840.9:c.1152C>T | ENSP00000155840.2:p.Ala384= | |
| ENST00000335475.5:c.771C>T | ENSP00000334497.5:p.Ala257= | |
| NM_000218.2:c.1152C>T , LRG_287t1:c.1152C>T | NP_000209.2:p.Ala384= | |
| NM_181798.1:c.771C>T , LRG_287t2:c.771C>T | NP_861463.1:p.Ala257= | |
| NM_000218.3:c.1152C>T MANE Select | NP_000209.2:p.Ala384= |