ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012022 (EAS)
Exomes Max Group AF
0.00011816 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36316553G>A , CM000684.2:g.36316553G>A | GRCh38 |
| NC_000022.10:g.36712598G>A , CM000684.1:g.36712598G>A | GRCh37 |
| NC_000022.9:g.35042544G>A | NCBI36 |
| NG_011884.2:g.76466C>T , LRG_567:g.76466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.1558C>T | ||
| ENST00000685801.1:c.1344C>T | ENSP00000510688.1:p.Ile448= | |
| ENST00000691109.1:n.1639C>T | ||
| ENST00000691687.1:n.2142C>T | ||
| ENST00000692930.1:n.1558C>T | ||
| ENST00000216181.11:c.1344C>T MANE Select | ENSP00000216181.6:p.Ile448= | |
| ENST00000216181.9:c.1344C>T | ENSP00000216181.5:p.Ile448= | |
| ENST00000477189.1:n.532C>T | ||
| NM_002473.5:c.1344C>T , LRG_567t1:c.1344C>T | NP_002464.1:p.Ile448= | |
| XM_011530197.1:c.1344C>T | XP_011528499.1:p.Ile448= | |
| XM_011530197.2:c.1344C>T | XP_011528499.1:p.Ile448= | |
| XM_017028803.1:c.1344C>T | XP_016884292.1:p.Ile448= | |
| XM_017028804.1:c.1344C>T | XP_016884293.1:p.Ile448= | |
| XM_017028805.1:c.1344C>T | XP_016884294.1:p.Ile448= | |
| XM_017028806.1:c.1344C>T | XP_016884295.1:p.Ile448= | |
| NM_002473.6:c.1344C>T MANE Select | NP_002464.1:p.Ile448= |