Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.71605457C= , CM000663.2:g.71605457C= | GRCh38 |
| NC_000001.10:g.72071140C= , CM000663.1:g.72071140C= | GRCh37 |
| NC_000001.9:g.71843728C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357731.10:c.788+5569G= MANE Select | ENSP00000350364.4:n.788+5569G= | |
| ENST00000306821.3:c.404+5569G= | ENSP00000305938.3:n.404+5569G= | |
| ENST00000357731.9:c.788+5569G= | ENSP00000350364.4:n.788+5569G= | |
| ENST00000434200.5:c.623+5569G= | ENSP00000413294.2:n.623+5569G= | |
| NM_173808.2:c.788+5569G= | NP_776169.2:n.788+5569G= | |
| XM_011541200.1:c.788+5569G= | XP_011539502.1:n.788+5569G= | |
| XM_011541200.3:c.788+5569G= | XP_011539502.1:n.788+5569G= | |
| NM_173808.3:c.788+5569G= MANE Select | NP_776169.2:n.788+5569G= |