Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528970G= , CM000681.2:g.7528970G= | GRCh38 |
| NC_000019.9:g.7593856G= , CM000681.1:g.7593856G= | GRCh37 |
| NC_000019.8:g.7499856G= | NCBI36 |
| NG_015806.1:g.11361G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1134G= MANE Select | ENSP00000264079.5:p.Lys378= | |
| ENST00000264079.10:c.1134G= | ENSP00000264079.5:p.Lys378= | |
| ENST00000394321.9:n.1449G= | ||
| ENST00000595860.5:n.317G= | ||
| ENST00000599334.1:c.11G= | ||
| NM_020533.2:c.1134G= | NP_065394.1:p.Lys378= | |
| NM_020533.3:c.1134G= MANE Select | NP_065394.1:p.Lys378= |