gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013006 (AFR)
Genomes Max Group AF
0.00013007 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4918078C>T , CM000674.2:g.4918078C>T | GRCh38 |
| NC_000012.11:g.5027244C>T , CM000674.1:g.5027244C>T | GRCh37 |
| NC_000012.10:g.4897505C>T | NCBI36 |
| NG_011815.1:g.13172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*5212C>T MANE Select | ENSP00000371985.3:n.*5212C>T | |
| ENST00000543874.3:n.398C>T | ||
| ENST00000639306.1:c.2476C>T | ENSP00000492506.1:n.2476C>T | |
| ENST00000639680.1:c.452C>T | ||
| ENST00000382545.3:c.*5212C>T | ENSP00000371985.3:n.*5212C>T | |
| ENST00000541095.1:n.105+7606C>T | ||
| ENST00000543874.2:n.389C>T | ||
| NM_000217.2:c.*5212C>T | NP_000208.2:n.*5212C>T | |
| NM_000217.3:c.*5212C>T MANE Select | NP_000208.2:n.*5212C>T |