Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640948C= , CM000664.2:g.73640948C= | GRCh38 |
| NC_000002.11:g.73868075C= , CM000664.1:g.73868075C= | GRCh37 |
| NC_000002.10:g.73721583C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.681G= MANE Select | ENSP00000272425.3:p.Leu227= | |
| ENST00000272425.3:c.681G= | ENSP00000272425.3:p.Leu227= | |
| NM_003960.3:c.681G= | NP_003951.3:p.Leu227= | |
| NM_003960.4:c.681G= MANE Select | NP_003951.3:p.Leu227= |