Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148628C= , CM000663.2:g.16148628C= | GRCh38 |
| NC_000001.10:g.16475123C= , CM000663.1:g.16475123C= | GRCh37 |
| NC_000001.9:g.16347710C= | NCBI36 |
| NG_021396.1:g.12460G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.573G= MANE Select | NP_004422.2:p.Leu191= |
| ENST00000358432.8:c.573G= MANE Select | ENSP00000351209.5:p.Leu191= |
| NM_001329090.1:c.411G= | NP_001316019.1:p.Leu137= |
| NM_001329090.2:c.411G= | NP_001316019.1:p.Leu137= |
| NM_004431.3:c.573G= | NP_004422.2:p.Leu191= |
| NM_004431.4:c.573G= | NP_004422.2:p.Leu191= |
| ENST00000358432.7:c.573G= | ENSP00000351209.5:p.Leu191= |
| ENST00000461614.1:n.625G= | |
| XM_017000537.1:c.573G= | XP_016856026.1:p.Leu191= |