Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564860C>A , CM000684.2:g.36564860C>A | GRCh38 |
| NC_000022.10:g.36960907C>A , CM000684.1:g.36960907C>A | GRCh37 |
| NC_000022.9:g.35290853C>A | NCBI36 |
| NG_031861.1:g.142784G>T | |
| NG_031861.2:g.142999G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.463G>T MANE Select | ENSP00000300105.6:p.Val155Leu | |
| ENST00000300105.6:c.463G>T | ENSP00000300105.6:p.Val155Leu | |
| NM_006078.3:c.463G>T | NP_006069.1:p.Val155Leu | |
| NM_006078.4:c.463G>T | NP_006069.1:p.Val155Leu | |
| XM_017028531.2:c.205G>T | XP_016884020.1:p.Val69Leu | |
| NM_001379051.1:c.394G>T | NP_001365980.1:p.Val132Leu | |
| NM_006078.5:c.463G>T MANE Select | NP_006069.1:p.Val155Leu | |
| NR_166440.1:n.1829G>T |