Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124225C= , CM000664.2:g.208124225C= | GRCh38 |
| NC_000002.11:g.208988949C= , CM000664.1:g.208988949C= | GRCh37 |
| NC_000002.10:g.208697194C= | NCBI36 |
| NG_008039.1:g.5365G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.139G= MANE Select | ENSP00000264376.4:p.Glu47= | |
| ENST00000264376.4:c.139G= | ENSP00000264376.4:p.Glu47= | |
| NM_006891.3:c.139G= | NP_008822.2:p.Glu47= | |
| NR_038437.1:n.97+5000C= | ||
| NM_006891.4:c.139G= MANE Select | NP_008822.2:p.Glu47= |