gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028277 (SAS)
Genomes Max Group AF
0.00010174 (NFE)
Exomes Max Group AF
0.00028917 (SAS)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947832C>T , CM000669.2:g.150947832C>T | GRCh38 |
| NC_000007.13:g.150644920C>T , CM000669.1:g.150644920C>T | GRCh37 |
| NC_000007.12:g.150275853C>T | NCBI36 |
| NG_008916.1:g.35095G>A , LRG_288:g.35095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3572G>A | ||
| ENST00000262186.10:c.2739G>A MANE Select | ENSP00000262186.5:p.Ala913= | |
| ENST00000330883.9:c.1719G>A | ENSP00000328531.4:p.Ala573= | |
| ENST00000262186.9:c.2739G>A | ENSP00000262186.5:p.Ala913= | |
| ENST00000330883.8:c.1719G>A | ENSP00000328531.4:p.Ala573= | |
| NM_000238.3:c.2739G>A , LRG_288t1:c.2739G>A | NP_000229.1:p.Ala913= | |
| NM_172057.2:c.1719G>A , LRG_288t3:c.1719G>A | NP_742054.1:p.Ala573= | |
| XM_011516185.1:c.2439G>A | XP_011514487.1:p.Ala813= | |
| XM_011516186.1:c.2693-141G>A | XP_011514488.1:n.2693-141G>A | |
| XM_011516185.2:c.2439G>A | XP_011514487.1:p.Ala813= | |
| XM_011516186.3:c.2693-141G>A | XP_011514488.1:n.2693-141G>A | |
| XM_017012195.1:c.2589G>A | XP_016867684.1:p.Ala863= | |
| XM_017012196.1:c.2562G>A | XP_016867685.1:p.Ala854= | |
| NM_000238.4:c.2739G>A MANE Select | NP_000229.1:p.Ala913= | |
| NM_172057.3:c.1719G>A | NP_742054.1:p.Ala573= |