gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957489T>C , CM000669.2:g.150957489T>C | GRCh38 |
| NC_000007.13:g.150654577T>C , CM000669.1:g.150654577T>C | GRCh37 |
| NC_000007.12:g.150285510T>C | NCBI36 |
| NG_008916.1:g.25438A>G , LRG_288:g.25438A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1763A>G | ||
| ENST00000262186.10:c.930A>G MANE Select | ENSP00000262186.5:p.Pro310= | |
| ENST00000262186.9:c.930A>G | ENSP00000262186.5:p.Pro310= | |
| ENST00000430723.4:c.582A>G | ENSP00000387657.4:p.Pro194= | |
| ENST00000532957.5:n.1153A>G | ||
| NM_000238.3:c.930A>G , LRG_288t1:c.930A>G | NP_000229.1:p.Pro310= | |
| NM_172056.2:c.930A>G , LRG_288t2:c.930A>G | NP_742053.1:p.Pro310= | |
| XM_011516185.1:c.630A>G | XP_011514487.1:p.Pro210= | |
| XM_011516186.1:c.930A>G | XP_011514488.1:p.Pro310= | |
| XM_011516185.2:c.630A>G | XP_011514487.1:p.Pro210= | |
| XM_011516186.3:c.930A>G | XP_011514488.1:p.Pro310= | |
| XM_017012195.1:c.780A>G | XP_016867684.1:p.Pro260= | |
| XM_017012196.1:c.753A>G | XP_016867685.1:p.Pro251= | |
| NM_000238.4:c.930A>G MANE Select | NP_000229.1:p.Pro310= |