Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727403C= , CM000672.2:g.87727403C= | GRCh38 |
| NC_000010.10:g.89487160C= , CM000672.1:g.89487160C= | GRCh37 |
| NC_000010.9:g.89477140C= | NCBI36 |
| NG_012150.1:g.72685C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1000C= MANE Select | ENSP00000406157.1:p.Arg334= | |
| ENST00000361175.8:c.985C= | ENSP00000354436.4:p.Arg329= | |
| ENST00000456849.1:c.1000C= | ENSP00000406157.1:p.Arg334= | |
| NM_001015880.1:c.1000C= | NP_001015880.1:p.Arg334= | |
| NM_004670.3:c.985C= | NP_004661.2:p.Arg329= | |
| NM_001015880.2:c.1000C= MANE Select | NP_001015880.1:p.Arg334= | |
| NM_004670.4:c.985C= | NP_004661.2:p.Arg329= |