Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527999A= , CM000681.2:g.7527999A= | GRCh38 |
| NC_000019.9:g.7592885A= , CM000681.1:g.7592885A= | GRCh37 |
| NC_000019.8:g.7498885A= | NCBI36 |
| NG_015806.1:g.10390A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.777+39A= MANE Select | ENSP00000264079.5:n.777+39A= | |
| ENST00000264079.10:c.777+39A= | ENSP00000264079.5:n.777+39A= | |
| ENST00000394321.9:n.1092+39A= | ||
| NM_020533.2:c.777+39A= | NP_065394.1:n.777+39A= | |
| NM_020533.3:c.777+39A= MANE Select | NP_065394.1:n.777+39A= |