Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123218784G>C , CM000668.2:g.123218784G>C | GRCh38 |
| NC_000006.11:g.123539929G>C , CM000668.1:g.123539929G>C | GRCh37 |
| NC_000006.10:g.123581628G>C | NCBI36 |
| NG_030438.1:g.423310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.2051-44C>G MANE Select | ENSP00000333984.5:n.2051-44C>G | |
| ENST00000334268.8:c.2051-44C>G | ENSP00000333984.5:n.2051-44C>G | |
| NM_006073.3:c.2051-44C>G | NP_006064.2:n.2051-44C>G | |
| XM_011535382.1:c.1970-44C>G | XP_011533684.1:n.1970-44C>G | |
| NM_006073.4:c.2051-44C>G MANE Select | NP_006064.2:n.2051-44C>G |