gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00209068 (MID)
Genomes Max Group AF
0.00124252 (NFE)
Exomes Max Group AF
0.0022365 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228982C>T , CM000663.2:g.2228982C>T | GRCh38 |
| NC_000001.10:g.2160421C>T , CM000663.1:g.2160421C>T | GRCh37 |
| NC_000001.9:g.2150281C>T | NCBI36 |
| NG_013084.1:g.5288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1458C>T | ||
| ENST00000378536.5:c.216C>T MANE Select | ENSP00000367797.4:p.Pro72= | |
| ENST00000378536.4:c.216C>T | ENSP00000367797.4:p.Pro72= | |
| NM_003036.3:c.216C>T | NP_003027.1:p.Pro72= | |
| XM_005244775.2:c.216C>T | XP_005244832.1:p.Pro72= | |
| XM_005244775.3:c.216C>T | XP_005244832.1:p.Pro72= | |
| NM_003036.4:c.216C>T MANE Select | NP_003027.1:p.Pro72= |