Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893266A= , CM000664.2:g.218893266A= | GRCh38 |
| NC_000002.11:g.219757988A= , CM000664.1:g.219757988A= | GRCh37 |
| NC_000002.10:g.219466232A= | NCBI36 |
| NG_012179.1:g.17734A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1249A= MANE Select | ENSP00000258411.3:p.Lys417= | |
| ENST00000258411.7:c.1249A= | ENSP00000258411.3:p.Lys417= | |
| ENST00000489887.1:n.46A= | ||
| NM_025216.2:c.1249A= | NP_079492.2:p.Lys417= | |
| XM_011511928.1:c.1198A= | XP_011510230.1:p.Lys400= | |
| XM_011511929.1:c.1153A= | XP_011510231.1:p.Lys385= | |
| XM_011511930.1:c.869A= | XP_011510232.1:p.Gln290= | |
| XM_011511929.2:c.1153A= | XP_011510231.1:p.Lys385= | |
| NM_025216.3:c.1249A= MANE Select | NP_079492.2:p.Lys417= |