Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495181C= , CM000685.2:g.54495181C= | GRCh38 |
| NC_000023.10:g.54521614C= , CM000685.1:g.54521614C= | GRCh37 |
| NC_000023.9:g.54538339C= | NCBI36 |
| NG_008054.1:g.5986G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.252G= MANE Select | ENSP00000364277.3:p.Gln84= | |
| ENST00000375135.3:c.252G= | ENSP00000364277.3:p.Gln84= | |
| NM_004463.2:c.252G= | NP_004454.2:p.Gln84= | |
| NM_004463.3:c.252G= MANE Select | NP_004454.2:p.Gln84= |