gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00896093 (EAS)
Genomes Max Group AF
0.0080595 (EAS)
Exomes Max Group AF
0.00884508 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86647879G>A , CM000670.2:g.86647879G>A | GRCh38 |
| NC_000008.10:g.87660107G>A , CM000670.1:g.87660107G>A | GRCh37 |
| NC_000008.9:g.87729223G>A | NCBI36 |
| NG_016980.1:g.100797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.912C>T MANE Select | ENSP00000316605.5:p.Val304= | |
| ENST00000681546.1:n.732C>T | ||
| ENST00000681746.1:c.912C>T | ENSP00000505959.1:p.Val304= | |
| ENST00000320005.5:c.912C>T | ENSP00000316605.5:p.Val304= | |
| NM_019098.4:c.912C>T | NP_061971.3:p.Val304= | |
| XM_011517138.1:c.498C>T | XP_011515440.1:p.Val166= | |
| XM_011517138.2:c.498C>T | XP_011515440.1:p.Val166= | |
| NM_019098.5:c.912C>T MANE Select | NP_061971.3:p.Val304= |