Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.71605415A>C , CM000663.2:g.71605415A>C | GRCh38 |
| NC_000001.10:g.72071098A>C , CM000663.1:g.72071098A>C | GRCh37 |
| NC_000001.9:g.71843686A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357731.10:c.788+5611T>G MANE Select | ENSP00000350364.4:n.788+5611T>G | |
| ENST00000306821.3:c.404+5611T>G | ENSP00000305938.3:n.404+5611T>G | |
| ENST00000357731.9:c.788+5611T>G | ENSP00000350364.4:n.788+5611T>G | |
| ENST00000434200.5:c.623+5611T>G | ENSP00000413294.2:n.623+5611T>G | |
| NM_173808.2:c.788+5611T>G | NP_776169.2:n.788+5611T>G | |
| XM_011541200.1:c.788+5611T>G | XP_011539502.1:n.788+5611T>G | |
| XM_011541200.3:c.788+5611T>G | XP_011539502.1:n.788+5611T>G | |
| NM_173808.3:c.788+5611T>G MANE Select | NP_776169.2:n.788+5611T>G |