Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838567C= , CM000664.2:g.182838567C= | GRCh38 |
| NC_000002.11:g.183703295C= , CM000664.1:g.183703295C= | GRCh37 |
| NC_000002.10:g.183411540C= | NCBI36 |
| NG_017197.1:g.33204G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.639G= MANE Select | ENSP00000295113.4:p.Val213= | |
| ENST00000295113.4:c.639G= | ENSP00000295113.4:p.Val213= | |
| NM_001463.3:c.639G= | NP_001454.2:p.Val213= | |
| NM_001463.4:c.639G= MANE Select | NP_001454.2:p.Val213= |