gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000003 (NFE)
Exomes Max Group AF
0.00000319 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50073986G>T , CM000674.2:g.50073986G>T | GRCh38 |
| NC_000012.11:g.50467769G>T , CM000674.1:g.50467769G>T | GRCh37 |
| NC_000012.10:g.48754036G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447966.7:c.559-3227G>T MANE Select | ENSP00000400228.3:n.559-3227G>T | |
| ENST00000228468.8:c.559-3227G>T | ENSP00000228468.4:n.559-3227G>T | |
| ENST00000447966.6:c.559-3227G>T | ENSP00000400228.2:n.559-3227G>T | |
| ENST00000453327.7:c.69-2982G>T | ||
| ENST00000550558.5:c.559-2982G>T | ENSP00000448263.1:n.559-2982G>T | |
| ENST00000551199.1:n.154+3093G>T | ||
| ENST00000552438.5:c.402G>T | ENSP00000450247.1:p.Pro134= | |
| NM_001095.3:c.559-3227G>T | NP_001086.2:n.559-3227G>T | |
| NM_001256830.1:c.402G>T | NP_001243759.1:p.Pro134= | |
| NM_020039.3:c.559-3227G>T | NP_064423.2:n.559-3227G>T | |
| NR_046389.1:n.855-2982G>T | ||
| XM_011538350.1:c.559-2982G>T | XP_011536652.1:n.559-2982G>T | |
| XM_011538351.1:c.559-2982G>T | XP_011536653.1:n.559-2982G>T | |
| XM_011538352.1:c.559-3227G>T | XP_011536654.1:n.559-3227G>T | |
| XM_011538351.2:c.559-2982G>T | XP_011536653.1:n.559-2982G>T | |
| NM_001095.4:c.559-3227G>T MANE Select | NP_001086.2:n.559-3227G>T | |
| NM_020039.4:c.559-3227G>T | NP_064423.2:n.559-3227G>T | |
| NR_046389.2:n.896-2982G>T |