Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176767979G= , CM000666.2:g.176767979G= | GRCh38 |
| NC_000004.11:g.177689133G= , CM000666.1:g.177689133G= | GRCh37 |
| NC_000004.10:g.177926127G= | NCBI36 |
| NG_034216.1:g.29767C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005429.5:c.147+24186C= MANE Select | NP_005420.1:n.147+24186C= |
| ENST00000618562.2:c.147+24186C= MANE Select | ENSP00000480043.1:n.147+24186C= |
| NM_005429.4:c.147+24186C= | NP_005420.1:n.147+24186C= |
| ENST00000618562.1:c.147+24186C= | ENSP00000480043.1:n.147+24186C= |