gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72153666 (NFE)
Genomes Max Group AF
0.72153666 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62025330G>T , CM000672.2:g.62025330G>T | GRCh38 |
| NC_000010.10:g.63785089G>T , CM000672.1:g.63785089G>T | GRCh37 |
| NC_000010.9:g.63455095G>T | NCBI36 |
| NG_030027.1:g.129077G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.733+25009G>T MANE Select | ENSP00000279873.7:n.733+25009G>T | |
| ENST00000644638.1:c.*626G>T | ENSP00000494412.1:n.*626G>T | |
| ENST00000681100.1:c.733+25009G>T | ENSP00000506119.1:n.733+25009G>T | |
| ENST00000279873.11:c.733+25009G>T | ENSP00000279873.7:n.733+25009G>T | |
| NM_032199.2:c.733+25009G>T | NP_115575.1:n.733+25009G>T | |
| XM_011540262.1:c.503-25558G>T | XP_011538564.1:n.503-25558G>T | |
| XM_024448230.1:c.166+25009G>T | XP_024303998.1:n.166+25009G>T | |
| NM_032199.3:c.733+25009G>T MANE Select | NP_115575.1:n.733+25009G>T |