Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414755G= , CM000667.2:g.1414755G= | GRCh38 |
| NC_000005.9:g.1414870G= , CM000667.1:g.1414870G= | GRCh37 |
| NC_000005.8:g.1467870G= | NCBI36 |
| NG_015885.1:g.35674C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1092C= MANE Select | ENSP00000270349.9:p.Val364= | |
| ENST00000270349.11:c.1092C= | ENSP00000270349.9:p.Val364= | |
| ENST00000511750.1:n.542C= | ||
| NM_001044.4:c.1092C= | NP_001035.1:p.Val364= | |
| NM_001044.5:c.1092C= MANE Select | NP_001035.1:p.Val364= |