Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103937426T>C , CM000673.2:g.103937426T>C | GRCh38 |
| NC_000011.9:g.103808154T>C , CM000673.1:g.103808154T>C | GRCh37 |
| NC_000011.8:g.103313364T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393158.7:c.772+6026A>G MANE Select | ENSP00000376865.2:n.772+6026A>G | |
| ENST00000302251.9:c.754+6026A>G | ENSP00000302193.5:n.754+6026A>G | |
| ENST00000393158.6:c.772+6026A>G | ENSP00000376865.2:n.772+6026A>G | |
| NM_025208.4:c.772+6026A>G | NP_079484.1:n.772+6026A>G | |
| NM_033135.3:c.754+6026A>G | NP_149126.1:n.754+6026A>G | |
| NM_025208.5:c.772+6026A>G MANE Select | NP_079484.1:n.772+6026A>G | |
| NM_033135.4:c.754+6026A>G | NP_149126.1:n.754+6026A>G |