Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996770T>A , CM000665.2:g.164996770T>A | GRCh38 |
| NC_000003.11:g.164714558T>A , CM000665.1:g.164714558T>A | GRCh37 |
| NC_000003.10:g.166197252T>A | NCBI36 |
| NG_017043.1:g.86726A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4543A>T MANE Select | ENSP00000264382.3:p.Met1515Leu | |
| ENST00000264382.7:c.4543A>T | ENSP00000264382.3:p.Met1515Leu | |
| NM_001041.3:c.4543A>T | NP_001032.2:p.Met1515Leu | |
| XM_011513078.1:c.4444A>T | XP_011511380.1:p.Met1482Leu | |
| XM_011513078.2:c.4444A>T | XP_011511380.1:p.Met1482Leu | |
| NM_001041.4:c.4543A>T MANE Select | NP_001032.2:p.Met1515Leu |