Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648736C= , CM000669.2:g.152648736C= | GRCh38 |
| NC_000007.13:g.152345821C= , CM000669.1:g.152345821C= | GRCh37 |
| NC_000007.12:g.151976754C= | NCBI36 |
| NG_027988.1:g.32430G= | |
| NG_027988.2:g.32430G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.581G= | ENSP00000513758.1:p.Ser194= | |
| ENST00000359321.2:c.749G= MANE Select | ENSP00000352271.1:p.Ser250= | |
| ENST00000359321.1:c.749G= | ENSP00000352271.1:p.Ser250= | |
| ENST00000495707.1:n.771G= | ||
| NM_005431.1:c.749G= | NP_005422.1:p.Ser250= | |
| NM_005431.2:c.749G= MANE Select | NP_005422.1:p.Ser250= |