Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660769A>T , CM000669.2:g.152660769A>T | GRCh38 |
| NC_000007.13:g.152357854A>T , CM000669.1:g.152357854A>T | GRCh37 |
| NC_000007.12:g.151988787A>T | NCBI36 |
| NG_027988.1:g.20397T>A | |
| NG_027988.2:g.20397T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11406T>A | ENSP00000513758.1:n.-47-11406T>A | |
| ENST00000698507.1:n.121T>A | ||
| ENST00000359321.2:c.53T>A MANE Select | ENSP00000352271.1:p.Leu18His | |
| ENST00000359321.1:c.53T>A | ENSP00000352271.1:p.Leu18His | |
| ENST00000495707.1:n.75T>A | ||
| NM_005431.1:c.53T>A | NP_005422.1:p.Leu18His | |
| NM_005431.2:c.53T>A MANE Select | NP_005422.1:p.Leu18His |