gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94231601 (AFR)
Genomes Max Group AF
0.94231601 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48024325C>T , CM000681.2:g.48024325C>T | GRCh38 |
| NC_000019.9:g.48527582C>T , CM000681.1:g.48527582C>T | GRCh37 |
| NC_000019.8:g.53219394C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339841.7:c.*8-627C>T MANE Select | ENSP00000340660.2:n.*8-627C>T | |
| ENST00000339841.6:c.*8-627C>T | ENSP00000340660.2:n.*8-627C>T | |
| ENST00000593413.1:c.239-606C>T | ENSP00000470551.1:n.239-606C>T | |
| ENST00000593782.1:c.514-627C>T | ||
| ENST00000597519.5:c.*8-627C>T | ENSP00000471690.1:n.*8-627C>T | |
| ENST00000619003.4:c.*13-627C>T | ENSP00000481506.1:n.*13-627C>T | |
| NM_022142.4:c.*8-627C>T | NP_071425.3:n.*8-627C>T | |
| XM_006723322.2:c.*8-627C>T | XP_006723385.1:n.*8-627C>T | |
| XM_017027130.1:c.*8-627C>T | XP_016882619.1:n.*8-627C>T | |
| NM_022142.5:c.*8-627C>T MANE Select | NP_071425.3:n.*8-627C>T |