ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013915 (NFE)
Genomes Max Group AF
0.00009047 (NFE)
Exomes Max Group AF
0.00013882 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32877962G>A , CM000674.2:g.32877962G>A | GRCh38 |
| NC_000012.11:g.33030896G>A , CM000674.1:g.33030896G>A | GRCh37 |
| NC_000012.10:g.32922163G>A | NCBI36 |
| NG_009000.1:g.23885C>T , LRG_398:g.23885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.918C>T | ENSP00000515065.2:p.Pro306= | |
| ENST00000700563.2:c.918C>T | ENSP00000515066.2:p.Pro306= | |
| ENST00000700559.1:c.133C>T | ||
| ENST00000700560.1:n.133C>T | ||
| ENST00000700561.1:n.259C>T | ||
| ENST00000700563.1:c.872C>T | ||
| ENST00000700564.1:n.922C>T | ||
| ENST00000700565.1:n.771C>T | ||
| ENST00000070846.11:c.918C>T | ENSP00000070846.6:p.Pro306= | |
| ENST00000340811.9:c.918C>T MANE Select | ENSP00000342800.5:p.Pro306= | |
| ENST00000070846.10:c.918C>T | ENSP00000070846.6:p.Pro306= | |
| ENST00000340811.8:c.918C>T | ENSP00000342800.4:p.Pro306= | |
| ENST00000613243.1:c.918C>T | ENSP00000478295.1:p.Pro306= | |
| NM_001005242.2:c.918C>T | NP_001005242.2:p.Pro306= | |
| NM_004572.3:c.918C>T , LRG_398t1:c.918C>T | NP_004563.2:p.Pro306= | |
| NM_001005242.3:c.918C>T MANE Select | NP_001005242.2:p.Pro306= | |
| NM_004572.4:c.918C>T | NP_004563.2:p.Pro306= |