Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148631C>T , CM000663.2:g.16148631C>T | GRCh38 |
| NC_000001.10:g.16475126C>T , CM000663.1:g.16475126C>T | GRCh37 |
| NC_000001.9:g.16347713C>T | NCBI36 |
| NG_021396.1:g.12457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.570G>A MANE Select | ENSP00000351209.5:p.Ala190= | |
| ENST00000358432.7:c.570G>A | ENSP00000351209.5:p.Ala190= | |
| ENST00000461614.1:n.622G>A | ||
| NM_004431.3:c.570G>A | NP_004422.2:p.Ala190= | |
| NM_001329090.1:c.408G>A | NP_001316019.1:p.Ala136= | |
| NM_004431.4:c.570G>A | NP_004422.2:p.Ala190= | |
| XM_017000537.1:c.570G>A | XP_016856026.1:p.Ala190= | |
| NM_004431.5:c.570G>A MANE Select | NP_004422.2:p.Ala190= | |
| NM_001329090.2:c.408G>A | NP_001316019.1:p.Ala136= |