Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647011A>T , CM000669.2:g.100647011A>T | GRCh38 |
| NC_000007.13:g.100244634A>T , CM000669.1:g.100244634A>T | GRCh37 |
| NC_000007.12:g.100082570A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.896T>A MANE Select | ENSP00000160382.5:p.Leu299His | |
| ENST00000160382.9:c.896T>A | ENSP00000160382.5:p.Leu299His | |
| ENST00000487125.1:n.458T>A | ||
| NM_016188.4:c.896T>A | NP_057272.1:p.Leu299His | |
| XR_927476.1:n.1003T>A | ||
| NR_134539.1:n.1003T>A | ||
| NM_016188.5:c.896T>A MANE Select | NP_057272.1:p.Leu299His | |
| NR_134539.2:n.990T>A |