ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004019 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004091 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178502G>A , CM000668.2:g.24178502G>A | GRCh38 |
| NC_000006.11:g.24178730G>A , CM000668.1:g.24178730G>A | GRCh37 |
| NC_000006.10:g.24286709G>A | NCBI36 |
| NG_012829.1:g.184551C>T | |
| NG_012829.2:g.209791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1154C>T MANE Select | ENSP00000367715.3:p.Pro385Leu | |
| ENST00000378450.6:c.413C>T | ENSP00000367711.3:p.Pro138Leu | |
| ENST00000378454.7:c.1154C>T | ENSP00000367715.3:p.Pro385Leu | |
| NM_001195610.1:c.1154C>T | NP_001182539.1:p.Pro385Leu | |
| NM_016356.4:c.1154C>T | NP_057440.2:p.Pro385Leu | |
| NM_016356.5:c.1154C>T MANE Select | NP_057440.2:p.Pro385Leu | |
| NM_001195610.2:c.1154C>T | NP_001182539.1:p.Pro385Leu |