Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50820217C= , CM000681.2:g.50820217C= | GRCh38 |
| NC_000019.9:g.51323473C= , CM000681.1:g.51323473C= | GRCh37 |
| NC_000019.8:g.56015285C= | NCBI36 |
| NG_012094.1:g.8571G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002257.4:c.433G= MANE Select | NP_002248.1:p.Glu145= |
| ENST00000301420.3:c.433G= MANE Select | ENSP00000301420.1:p.Glu145= |
| NM_002257.3:c.433G= | NP_002248.1:p.Glu145= |
| ENST00000301420.2:c.433G= | ENSP00000301420.1:p.Glu145= |
| ENST00000593325.5:c.*1242G= | ENSP00000472939.1:n.*1242G= |
| ENST00000593859.5:n.472G= | |
| ENST00000596300.1:n.633G= | |
| XM_011526942.1:c.127G= | XP_011525244.1:p.Glu43= |