Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308854C= , CM000685.2:g.30308854C= | GRCh38 |
| NC_000023.10:g.30326971C= , CM000685.1:g.30326971C= | GRCh37 |
| NC_000023.9:g.30236892C= | NCBI36 |
| NG_009814.1:g.5525G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.510G= MANE Select | ENSP00000368253.4:p.Ala170= | |
| ENST00000378970.4:c.510G= | ENSP00000368253.4:p.Ala170= | |
| NM_000475.4:c.510G= | NP_000466.2:p.Ala170= | |
| NM_000475.5:c.510G= MANE Select | NP_000466.2:p.Ala170= |