Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005780C= , CM000664.2:g.20005780C= | GRCh38 |
| NC_000002.11:g.20205541C= , CM000664.1:g.20205541C= | GRCh37 |
| NC_000002.10:g.20069022C= | NCBI36 |
| NG_008087.1:g.11915G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002381.5:c.754G= MANE Select | NP_002372.1:p.Glu252= |
| ENST00000407540.8:c.754G= MANE Select | ENSP00000383894.3:p.Glu252= |
| NM_002381.4:c.754G= | NP_002372.1:p.Glu252= |
| ENST00000407540.7:c.754G= | ENSP00000383894.3:p.Glu252= |
| ENST00000421259.2:c.754G= | ENSP00000398753.2:p.Glu252= |