Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648488A= , CM000669.2:g.152648488A= | GRCh38 |
| NC_000007.13:g.152345573A= , CM000669.1:g.152345573A= | GRCh37 |
| NC_000007.12:g.151976506A= | NCBI36 |
| NG_027988.1:g.32678T= | |
| NG_027988.2:g.32678T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.*154T= | ENSP00000513758.1:n.*154T= | |
| ENST00000359321.2:c.*154T= MANE Select | ENSP00000352271.1:n.*154T= | |
| ENST00000359321.1:c.*154T= | ENSP00000352271.1:n.*154T= | |
| ENST00000495707.1:n.1019T= | ||
| NM_005431.1:c.*154T= | NP_005422.1:n.*154T= | |
| NM_005431.2:c.*154T= MANE Select | NP_005422.1:n.*154T= |