Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931599T>A , CM000677.2:g.40931599T>A | GRCh38 |
| NC_000015.9:g.41223797T>A , CM000677.1:g.41223797T>A | GRCh37 |
| NC_000015.8:g.39011089T>A | NCBI36 |
| NG_046974.1:g.7267T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.491T>A MANE Select | ENSP00000249749.5:p.Leu164His | |
| ENST00000249749.6:c.491T>A | ENSP00000249749.5:p.Leu164His | |
| ENST00000559440.1:n.720T>A | ||
| NM_019074.3:c.491T>A | NP_061947.1:p.Leu164His | |
| NM_019074.4:c.491T>A MANE Select | NP_061947.1:p.Leu164His |