Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495169G>T , CM000685.2:g.54495169G>T | GRCh38 |
| NC_000023.10:g.54521602G>T , CM000685.1:g.54521602G>T | GRCh37 |
| NC_000023.9:g.54538327G>T | NCBI36 |
| NG_008054.1:g.5998C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.264C>A MANE Select | ENSP00000364277.3:p.Ala88= | |
| ENST00000375135.3:c.264C>A | ENSP00000364277.3:p.Ala88= | |
| NM_004463.2:c.264C>A | NP_004454.2:p.Ala88= | |
| NM_004463.3:c.264C>A MANE Select | NP_004454.2:p.Ala88= |