gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014358 (AFR)
Genomes Max Group AF
0.00009542 (AFR)
Exomes Max Group AF
0.00013988 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214769274T>A , CM000664.2:g.214769274T>A | GRCh38 |
| NC_000002.11:g.215633998T>A , CM000664.1:g.215633998T>A | GRCh37 |
| NC_000002.10:g.215342243T>A | NCBI36 |
| NG_012047.2:g.45431A>T | |
| NG_012047.3:g.45438A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1353A>T MANE Select | ENSP00000260947.4:p.Gly451= | |
| ENST00000421162.2:c.216-16719A>T | ENSP00000392245.2:n.216-16719A>T | |
| ENST00000613192.2:c.159-38766A>T | ENSP00000483275.2:n.159-38766A>T | |
| ENST00000613374.5:c.159-16719A>T | ENSP00000484464.1:n.159-16719A>T | |
| ENST00000613706.5:c.945A>T | ENSP00000484976.2:p.Gly315= | |
| ENST00000617164.5:c.1296A>T | ENSP00000480470.1:p.Gly432= | |
| ENST00000619009.5:c.364+23023A>T | ENSP00000482293.1:n.364+23023A>T | |
| ENST00000650978.1:c.2728A>T | ||
| ENST00000260947.8:c.1353A>T | ENSP00000260947.4:p.Gly451= | |
| ENST00000421162.1:c.216-16719A>T | ENSP00000392245.1:n.216-16719A>T | |
| ENST00000455743.5:c.*973A>T | ENSP00000412186.1:n.*973A>T | |
| ENST00000613192.1:c.74-38766A>T | ENSP00000483275.1:n.74-38766A>T | |
| ENST00000613374.4:c.159-16719A>T | ENSP00000484464.1:n.159-16719A>T | |
| ENST00000613706.4:c.216-16719A>T | ENSP00000484976.1:n.216-16719A>T | |
| ENST00000617164.4:c.1296A>T | ENSP00000480470.1:p.Gly432= | |
| ENST00000619009.4:c.364+23023A>T | ENSP00000482293.1:n.364+23023A>T | |
| ENST00000620057.4:c.*19A>T | ENSP00000481988.1:n.*19A>T | |
| NM_000465.3:c.1353A>T | NP_000456.2:p.Gly451= | |
| NM_001282543.1:c.1296A>T | NP_001269472.1:p.Gly432= | |
| NM_001282545.1:c.216-16719A>T | NP_001269474.1:n.216-16719A>T | |
| NM_001282548.1:c.159-16719A>T | NP_001269477.1:n.159-16719A>T | |
| NM_001282549.1:c.364+23023A>T | NP_001269478.1:n.364+23023A>T | |
| NR_104212.1:n.1346A>T | ||
| NR_104215.1:n.1289A>T | ||
| NR_104216.1:n.545A>T | ||
| XM_011511567.1:c.1299A>T | XP_011509869.1:p.Gly433= | |
| XM_011511568.1:c.1353A>T | XP_011509870.1:p.Gly451= | |
| XM_017004613.1:c.1452A>T | XP_016860102.1:p.Gly484= | |
| XM_017004614.1:c.1452A>T | XP_016860103.1:p.Gly484= | |
| XR_002959322.1:n.1543A>T | ||
| NM_000465.4:c.1353A>T MANE Select | NP_000456.2:p.Gly451= | |
| NM_001282543.2:c.1296A>T | NP_001269472.1:p.Gly432= | |
| NM_001282545.2:c.216-16719A>T | NP_001269474.1:n.216-16719A>T | |
| NM_001282548.2:c.159-16719A>T | NP_001269477.1:n.159-16719A>T | |
| NM_001282549.2:c.364+23023A>T | NP_001269478.1:n.364+23023A>T | |
| NR_104212.2:n.1318A>T | ||
| NR_104215.2:n.1261A>T | ||
| NR_104216.2:n.517A>T |