Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485195G= , CM000668.2:g.143485195G= | GRCh38 |
| NC_000006.11:g.143806332G= , CM000668.1:g.143806332G= | GRCh37 |
| NC_000006.10:g.143848025G= | NCBI36 |
| NG_008459.1:g.39415G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.985G= MANE Select | ENSP00000356563.4:p.Val329= | |
| ENST00000367591.4:c.985G= | ENSP00000356563.4:p.Val329= | |
| ENST00000585848.1:n.124G= | ||
| NM_003630.2:c.985G= | NP_003621.1:p.Val329= | |
| NM_003630.3:c.985G= MANE Select | NP_003621.1:p.Val329= |