gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422778C>T , CM000681.2:g.41422778C>T | GRCh38 |
| NC_000019.9:g.41928683C>T , CM000681.1:g.41928683C>T | GRCh37 |
| NC_000019.8:g.46620523C>T | NCBI36 |
| NG_013004.1:g.29990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.995+8C>T MANE Select | ENSP00000269980.2:n.995+8C>T | |
| ENST00000269980.6:c.995+8C>T | ENSP00000269980.2:n.995+8C>T | |
| ENST00000457836.6:c.929+8C>T | ENSP00000416000.2:n.929+8C>T | |
| ENST00000540732.3:c.1097+8C>T | ENSP00000443246.1:n.1097+8C>T | |
| ENST00000542943.5:c.908+8C>T | ENSP00000440345.1:n.908+8C>T | |
| ENST00000595085.5:c.922+81C>T | ENSP00000471150.2:n.922+81C>T | |
| NM_000709.3:c.995+8C>T | NP_000700.1:n.995+8C>T | |
| NM_001164783.1:c.992+8C>T | NP_001158255.1:n.992+8C>T | |
| NM_000709.4:c.995+8C>T MANE Select | NP_000700.1:n.995+8C>T | |
| NM_001164783.2:c.992+8C>T | NP_001158255.1:n.992+8C>T |