Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122341439G>T , CM000665.2:g.122341439G>T | GRCh38 |
| NC_000003.11:g.122060286G>T , CM000665.1:g.122060286G>T | GRCh37 |
| NC_000003.10:g.123542976G>T | NCBI36 |
| NG_027995.1:g.21276G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264474.4:c.169G>T MANE Select | ENSP00000264474.3:p.Val57Leu | |
| ENST00000264474.3:c.169G>T | ENSP00000264474.3:p.Val57Leu | |
| NM_005213.3:c.169G>T | NP_005204.1:p.Val57Leu | |
| NM_005213.4:c.169G>T MANE Select | NP_005204.1:p.Val57Leu |