Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648663T= , CM000669.2:g.152648663T= | GRCh38 |
| NC_000007.13:g.152345748T= , CM000669.1:g.152345748T= | GRCh37 |
| NC_000007.12:g.151976681T= | NCBI36 |
| NG_027988.1:g.32503A= | |
| NG_027988.2:g.32503A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.654A= | ENSP00000513758.1:p.Glu218= | |
| ENST00000359321.2:c.822A= MANE Select | ENSP00000352271.1:p.Glu274= | |
| ENST00000359321.1:c.822A= | ENSP00000352271.1:p.Glu274= | |
| ENST00000495707.1:n.844A= | ||
| NM_005431.1:c.822A= | NP_005422.1:p.Glu274= | |
| NM_005431.2:c.822A= MANE Select | NP_005422.1:p.Glu274= |