Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18121171G>C , CM000668.2:g.18121171G>C | GRCh38 |
| NC_000006.11:g.18121402G>C , CM000668.1:g.18121402G>C | GRCh37 |
| NC_000006.10:g.18229381G>C | NCBI36 |
| NG_016750.1:g.6450C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.*248C>G MANE Select | NP_940988.2:n.*248C>G |
| ENST00000340650.6:c.*248C>G MANE Select | ENSP00000345464.3:n.*248C>G |
| NM_198586.2:c.*248C>G | NP_940988.2:n.*248C>G |