Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227072T>A , CM000664.2:g.29227072T>A | GRCh38 |
| NC_000002.11:g.29449938T>A , CM000664.1:g.29449938T>A | GRCh37 |
| NC_000002.10:g.29303442T>A | NCBI36 |
| NG_009445.1:g.699495A>T , LRG_488:g.699495A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2917A>T MANE Select | ENSP00000373700.3:p.Met973Leu | |
| ENST00000431873.6:c.83A>T | ||
| ENST00000389048.7:c.2917A>T | ENSP00000373700.3:p.Met973Leu | |
| ENST00000618119.4:c.1786A>T | ENSP00000482733.1:p.Met596Leu | |
| NM_004304.4:c.2917A>T | NP_004295.2:p.Met973Leu | |
| XM_024452778.1:c.70A>T | XP_024308546.1:p.Met24Leu | |
| XR_001738688.2:n.3773A>T | ||
| NM_004304.5:c.2917A>T MANE Select | NP_004295.2:p.Met973Leu |