Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475368G>C , CM000673.2:g.113475368G>C | GRCh38 |
| NC_000011.9:g.113346090G>C , CM000673.1:g.113346090G>C | GRCh37 |
| NC_000011.8:g.112851300G>C | NCBI36 |
| NG_008841.1:g.4912C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-324C>G MANE Select | ENSP00000354859.3:n.-324C>G | |
| ENST00000362072.7:c.-324C>G | ENSP00000354859.3:n.-324C>G | |
| ENST00000540600.5:n.34+290C>G | ||
| NM_000795.4:c.-324C>G MANE Select | NP_000786.1:n.-324C>G | |
| NM_016574.4:c.-324C>G | NP_057658.2:n.-324C>G |