Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528639T= , CM000681.2:g.7528639T= | GRCh38 |
| NC_000019.9:g.7593525T= , CM000681.1:g.7593525T= | GRCh37 |
| NC_000019.8:g.7499525T= | NCBI36 |
| NG_015806.1:g.11030T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.920T= MANE Select | NP_065394.1:p.Leu307= |
| ENST00000264079.11:c.920T= MANE Select | ENSP00000264079.5:p.Leu307= |
| NM_020533.2:c.920T= | NP_065394.1:p.Leu307= |
| ENST00000264079.10:c.920T= | ENSP00000264079.5:p.Leu307= |
| ENST00000394321.9:n.1235T= |