Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649169C>T , CM000669.2:g.152649169C>T | GRCh38 |
| NC_000007.13:g.152346254C>T , CM000669.1:g.152346254C>T | GRCh37 |
| NC_000007.12:g.151977187C>T | NCBI36 |
| NG_027988.1:g.31997G>A | |
| NG_027988.2:g.31997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.148G>A | ENSP00000513758.1:p.Glu50Lys | |
| ENST00000359321.2:c.316G>A MANE Select | ENSP00000352271.1:p.Glu106Lys | |
| ENST00000359321.1:c.316G>A | ENSP00000352271.1:p.Glu106Lys | |
| ENST00000495707.1:n.338G>A | ||
| NM_005431.1:c.316G>A | NP_005422.1:p.Glu106Lys | |
| NM_005431.2:c.316G>A MANE Select | NP_005422.1:p.Glu106Lys |