Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541520T>A , CM000664.2:g.232541520T>A | GRCh38 |
| NC_000002.11:g.233406230T>A , CM000664.1:g.233406230T>A | GRCh37 |
| NC_000002.10:g.233114474T>A | NCBI36 |
| NG_012954.1:g.6794T>A | |
| NG_012954.2:g.6829T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.497T>A MANE Select | ENSP00000498757.1:p.Leu166His | |
| ENST00000389492.3:c.350+809T>A | ENSP00000374143.3:n.350+809T>A | |
| ENST00000389494.7:c.497T>A | ENSP00000374145.3:p.Leu166His | |
| ENST00000485094.1:n.518T>A | ||
| NM_005199.4:c.497T>A | NP_005190.4:p.Leu166His | |
| NM_005199.5:c.497T>A MANE Select | NP_005190.4:p.Leu166His |