gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148904C>T , CM000663.2:g.16148904C>T | GRCh38 |
| NC_000001.10:g.16475399C>T , CM000663.1:g.16475399C>T | GRCh37 |
| NC_000001.9:g.16347986C>T | NCBI36 |
| NG_021396.1:g.12184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.297G>A MANE Select | ENSP00000351209.5:p.Lys99= | |
| ENST00000358432.7:c.297G>A | ENSP00000351209.5:p.Lys99= | |
| ENST00000461614.1:n.349G>A | ||
| NM_004431.3:c.297G>A | NP_004422.2:p.Lys99= | |
| NM_001329090.1:c.135G>A | NP_001316019.1:p.Lys45= | |
| NM_004431.4:c.297G>A | NP_004422.2:p.Lys99= | |
| XM_017000537.1:c.297G>A | XP_016856026.1:p.Lys99= | |
| NM_004431.5:c.297G>A MANE Select | NP_004422.2:p.Lys99= | |
| NM_001329090.2:c.135G>A | NP_001316019.1:p.Lys45= |