Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273814G>T , CM000672.2:g.80273814G>T | GRCh38 |
| NC_000010.10:g.82033570G>T , CM000672.1:g.82033570G>T | GRCh37 |
| NC_000010.9:g.82023550G>T | NCBI36 |
| NG_008083.1:g.20865C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1155C>A MANE Select | ENSP00000361287.3:p.Phe385Leu | |
| ENST00000372213.7:c.1155C>A | ENSP00000361287.3:p.Phe385Leu | |
| ENST00000480845.1:n.387C>A | ||
| ENST00000485270.5:n.667C>A | ||
| NM_000429.2:c.1155C>A | NP_000420.1:p.Phe385Leu | |
| XM_005269842.3:c.1155C>A | XP_005269899.1:p.Phe385Leu | |
| XM_005269843.3:c.1032C>A | XP_005269900.1:p.Phe344Leu | |
| NM_000429.3:c.1155C>A MANE Select | NP_000420.1:p.Phe385Leu |