ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0004385 (SAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00045374 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63949521G>A , CM000679.2:g.63949521G>A | GRCh38 |
| NC_000017.10:g.62026881G>A , CM000679.1:g.62026881G>A | GRCh37 |
| NC_000017.9:g.59380613G>A | NCBI36 |
| NG_011699.1:g.28398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.2861C>T MANE Select | ENSP00000396320.1:p.Pro954Leu | |
| ENST00000578147.5:c.2861C>T | ENSP00000463963.1:p.Pro954Leu | |
| ENST00000584310.1:n.184C>T | ||
| NM_000334.4:c.2861C>T MANE Select | NP_000325.4:p.Pro954Leu | |
| XM_005257566.3:c.2861C>T | XP_005257623.1:p.Pro954Leu |