Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485200C= , CM000668.2:g.143485200C= | GRCh38 |
| NC_000006.11:g.143806337C= , CM000668.1:g.143806337C= | GRCh37 |
| NC_000006.10:g.143848030C= | NCBI36 |
| NG_008459.1:g.39420C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.990C= MANE Select | ENSP00000356563.4:p.Asn330= | |
| ENST00000367591.4:c.990C= | ENSP00000356563.4:p.Asn330= | |
| ENST00000585848.1:n.129C= | ||
| NM_003630.2:c.990C= | NP_003621.1:p.Asn330= | |
| NM_003630.3:c.990C= MANE Select | NP_003621.1:p.Asn330= |