gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0219858 (MID)
Genomes Max Group AF
0.00303682 (NFE)
Exomes Max Group AF
0.02165132 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501648G>A , CM000669.2:g.92501648G>A | GRCh38 |
| NC_000007.13:g.92130962G>A , CM000669.1:g.92130962G>A | GRCh37 |
| NC_000007.12:g.91968898G>A | NCBI36 |
| NG_008341.1:g.31884C>T | |
| NG_008341.2:g.31884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2442C>T MANE Select | ENSP00000248633.4:p.Phe814= | |
| ENST00000248633.8:c.2442C>T | ENSP00000248633.4:p.Phe814= | |
| ENST00000428214.5:c.2271C>T | ENSP00000394413.1:p.Phe757= | |
| ENST00000438045.5:c.1476C>T | ENSP00000410438.1:p.Phe492= | |
| ENST00000484913.5:n.2481C>T | ||
| ENST00000496420.5:n.2334C>T | ||
| NM_000466.2:c.2442C>T | NP_000457.1:p.Phe814= | |
| NM_001282677.1:c.2271C>T | NP_001269606.1:p.Phe757= | |
| NM_001282678.1:c.1818C>T | NP_001269607.1:p.Phe606= | |
| XM_005250433.3:c.693C>T | XP_005250490.1:p.Phe231= | |
| XR_242246.3:n.2538C>T | ||
| XM_017012319.2:c.693C>T | XP_016867808.1:p.Phe231= | |
| XR_001744808.2:n.1469C>T | ||
| XR_242246.5:n.2489C>T | ||
| NM_000466.3:c.2442C>T MANE Select | NP_000457.1:p.Phe814= | |
| NM_001282677.2:c.2271C>T | NP_001269606.1:p.Phe757= | |
| NM_001282678.2:c.1818C>T | NP_001269607.1:p.Phe606= |