Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676048C>T , CM000669.2:g.152676048C>T | GRCh38 |
| NC_000007.13:g.152373133C>T , CM000669.1:g.152373133C>T | GRCh37 |
| NC_000007.12:g.152004066C>T | NCBI36 |
| NG_027988.1:g.5118G>A | |
| NG_027988.2:g.5118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-55G>A | ENSP00000513758.1:n.-55G>A | |
| ENST00000698507.1:n.100G>A | ||
| ENST00000359321.2:c.32G>A MANE Select | ENSP00000352271.1:p.Gly11Glu | |
| ENST00000359321.1:c.32G>A | ENSP00000352271.1:p.Gly11Glu | |
| NM_005431.1:c.32G>A | NP_005422.1:p.Gly11Glu | |
| NM_005431.2:c.32G>A MANE Select | NP_005422.1:p.Gly11Glu |