gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6360817 (NFE)
Genomes Max Group AF
0.6360817 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61935289C>G , CM000672.2:g.61935289C>G | GRCh38 |
| NC_000010.10:g.63695048C>G , CM000672.1:g.63695048C>G | GRCh37 |
| NC_000010.9:g.63365054C>G | NCBI36 |
| NG_030027.1:g.39036C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.277-4894C>G MANE Select | ENSP00000279873.7:n.277-4894C>G | |
| ENST00000644638.1:c.277-4894C>G | ENSP00000494412.1:n.277-4894C>G | |
| ENST00000681100.1:c.277-4894C>G | ENSP00000506119.1:n.277-4894C>G | |
| ENST00000279873.11:c.277-4894C>G | ENSP00000279873.7:n.277-4894C>G | |
| NM_032199.2:c.277-4894C>G | NP_115575.1:n.277-4894C>G | |
| XM_011540262.1:c.277-4894C>G | XP_011538564.1:n.277-4894C>G | |
| XM_024448230.1:c.-291-4894C>G | XP_024303998.1:n.-291-4894C>G | |
| NM_032199.3:c.277-4894C>G MANE Select | NP_115575.1:n.277-4894C>G |