Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893390A= , CM000664.2:g.218893390A= | GRCh38 |
| NC_000002.11:g.219758112A= , CM000664.1:g.219758112A= | GRCh37 |
| NC_000002.10:g.219466356A= | NCBI36 |
| NG_012179.1:g.17858A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.*119A= MANE Select | ENSP00000258411.3:n.*119A= | |
| ENST00000258411.7:c.*119A= | ENSP00000258411.3:n.*119A= | |
| ENST00000489887.1:n.47+123A= | ||
| NM_025216.2:c.*119A= | NP_079492.2:n.*119A= | |
| XM_011511928.1:c.*119A= | XP_011510230.1:n.*119A= | |
| XM_011511929.1:c.*119A= | XP_011510231.1:n.*119A= | |
| XM_011511930.1:c.*93A= | XP_011510232.1:n.*93A= | |
| XM_011511929.2:c.*119A= | XP_011510231.1:n.*119A= | |
| NM_025216.3:c.*119A= MANE Select | NP_079492.2:n.*119A= |