gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29850524 (AFR)
Genomes Max Group AF
0.29850524 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47710446C>T , CM000668.2:g.47710446C>T | GRCh38 |
| NC_000006.11:g.47678182C>T , CM000668.1:g.47678182C>T | GRCh37 |
| NC_000006.10:g.47786141C>T | NCBI36 |
| NG_052799.1:g.29583C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283303.3:c.149-289C>T MANE Select | ENSP00000283303.2:n.149-289C>T | |
| ENST00000283303.2:c.149-289C>T | ENSP00000283303.2:n.149-289C>T | |
| ENST00000327753.7:c.149-289C>T | ENSP00000328319.3:n.149-289C>T | |
| ENST00000371220.5:c.320-289C>T | ENSP00000360264.1:n.320-289C>T | |
| NM_153838.3:c.149-289C>T | NP_722580.3:n.149-289C>T | |
| NM_001347855.1:c.149-289C>T | NP_001334784.1:n.149-289C>T | |
| NM_153838.4:c.149-289C>T | NP_722580.3:n.149-289C>T | |
| NM_001347855.2:c.149-289C>T | NP_001334784.1:n.149-289C>T | |
| NM_153838.5:c.149-289C>T MANE Select | NP_722580.3:n.149-289C>T |