gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002849 (NFE)
Genomes Max Group AF
0.00002849 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55349464C>T , CM000666.2:g.55349464C>T | GRCh38 |
| NC_000004.11:g.56215631C>T , CM000666.1:g.56215631C>T | GRCh37 |
| NC_000004.10:g.55910388C>T | NCBI36 |
| NG_028230.1:g.8244C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.221+2907C>T MANE Select | ENSP00000264228.4:n.221+2907C>T | |
| ENST00000679351.1:c.221+2907C>T | ENSP00000505676.1:n.221+2907C>T | |
| ENST00000679707.1:c.221+2907C>T | ENSP00000505713.1:n.221+2907C>T | |
| ENST00000679836.1:c.221+2907C>T | ENSP00000506601.1:n.221+2907C>T | |
| ENST00000680700.1:c.221+2907C>T | ENSP00000504926.1:n.221+2907C>T | |
| ENST00000264228.8:c.221+2907C>T | ENSP00000264228.4:n.221+2907C>T | |
| ENST00000505210.1:c.146+2907C>T | ENSP00000424714.1:n.146+2907C>T | |
| NM_024592.4:c.221+2907C>T | NP_078868.1:n.221+2907C>T | |
| XM_005265766.2:c.221+2907C>T | XP_005265823.1:n.221+2907C>T | |
| XM_005265767.2:c.221+2907C>T | XP_005265824.1:n.221+2907C>T | |
| XM_005265766.4:c.221+2907C>T | XP_005265823.1:n.221+2907C>T | |
| XM_005265767.3:c.221+2907C>T | XP_005265824.1:n.221+2907C>T | |
| NM_024592.5:c.221+2907C>T MANE Select | NP_078868.1:n.221+2907C>T |