Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73478096C>A , CM000669.2:g.73478096C>A | GRCh38 |
| NC_000007.13:g.72892426C>A , CM000669.1:g.72892426C>A | GRCh37 |
| NC_000007.12:g.72530362C>A | NCBI36 |
| NG_027679.1:g.49190G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339594.9:c.1365G>T MANE Select | ENSP00000342434.4:p.Arg455= | |
| ENST00000339594.8:c.1365G>T | ENSP00000342434.4:p.Arg455= | |
| ENST00000404251.1:c.1365G>T | ENSP00000385442.1:p.Arg455= | |
| NM_032408.3:c.1365G>T | NP_115784.1:p.Arg455= | |
| XM_005250683.2:c.1365G>T | XP_005250740.2:p.Arg455= | |
| XM_017012773.2:c.1365G>T | XP_016868262.1:p.Arg455= | |
| XR_001744892.2:n.1483G>T | ||
| NM_032408.4:c.1365G>T MANE Select | NP_115784.1:p.Arg455= | |
| NM_001370402.1:c.1365G>T | NP_001357331.1:p.Arg455= |