gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028116 (NFE)
Genomes Max Group AF
0.00020666 (NFE)
Exomes Max Group AF
0.00028035 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947841C>T , CM000669.2:g.150947841C>T | GRCh38 |
| NC_000007.13:g.150644929C>T , CM000669.1:g.150644929C>T | GRCh37 |
| NC_000007.12:g.150275862C>T | NCBI36 |
| NG_008916.1:g.35086G>A , LRG_288:g.35086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3563G>A | ||
| ENST00000262186.10:c.2730G>A MANE Select | ENSP00000262186.5:p.Pro910= | |
| ENST00000330883.9:c.1710G>A | ENSP00000328531.4:p.Pro570= | |
| ENST00000262186.9:c.2730G>A | ENSP00000262186.5:p.Pro910= | |
| ENST00000330883.8:c.1710G>A | ENSP00000328531.4:p.Pro570= | |
| NM_000238.3:c.2730G>A , LRG_288t1:c.2730G>A | NP_000229.1:p.Pro910= | |
| NM_172057.2:c.1710G>A , LRG_288t3:c.1710G>A | NP_742054.1:p.Pro570= | |
| XM_011516185.1:c.2430G>A | XP_011514487.1:p.Pro810= | |
| XM_011516186.1:c.2693-150G>A | XP_011514488.1:n.2693-150G>A | |
| XM_011516185.2:c.2430G>A | XP_011514487.1:p.Pro810= | |
| XM_011516186.3:c.2693-150G>A | XP_011514488.1:n.2693-150G>A | |
| XM_017012195.1:c.2580G>A | XP_016867684.1:p.Pro860= | |
| XM_017012196.1:c.2553G>A | XP_016867685.1:p.Pro851= | |
| NM_000238.4:c.2730G>A MANE Select | NP_000229.1:p.Pro910= | |
| NM_172057.3:c.1710G>A | NP_742054.1:p.Pro570= |