Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154067G= , CM000681.2:g.55154067G= | GRCh38 |
| NC_000019.9:g.55665435G= , CM000681.1:g.55665435G= | GRCh37 |
| NC_000019.8:g.60357247G= | NCBI36 |
| NG_007866.2:g.8666C= , LRG_432:g.8666C= | |
| NG_011829.2:g.172C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.512C= MANE Select | ENSP00000341838.5:p.Ala171= | |
| ENST00000665070.1:c.545C= | ENSP00000499482.1:p.Ala182= | |
| ENST00000344887.9:c.512C= | ENSP00000341838.5:p.Ala171= | |
| ENST00000585806.5:n.511C= | ||
| ENST00000588882.1:c.437C= | ENSP00000466729.1:p.Ala146= | |
| ENST00000589864.1:n.340C= | ||
| NM_000363.4:c.512C= , LRG_432t1:c.512C= | NP_000354.4:p.Ala171= | |
| NM_000363.5:c.512C= MANE Select | NP_000354.4:p.Ala171= |