Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648830C= , CM000669.2:g.152648830C= | GRCh38 |
| NC_000007.13:g.152345915C= , CM000669.1:g.152345915C= | GRCh37 |
| NC_000007.12:g.151976848C= | NCBI36 |
| NG_027988.1:g.32336G= | |
| NG_027988.2:g.32336G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.487G= | ENSP00000513758.1:p.Val163= | |
| ENST00000359321.2:c.655G= MANE Select | ENSP00000352271.1:p.Val219= | |
| ENST00000359321.1:c.655G= | ENSP00000352271.1:p.Val219= | |
| ENST00000495707.1:n.677G= | ||
| NM_005431.1:c.655G= | NP_005422.1:p.Val219= | |
| NM_005431.2:c.655G= MANE Select | NP_005422.1:p.Val219= |