Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992613C>G , CM000667.2:g.177992613C>G | GRCh38 |
| NC_000005.9:g.177419614C>G , CM000667.1:g.177419614C>G | GRCh37 |
| NC_000005.8:g.177352220C>G | NCBI36 |
| NG_015889.1:g.8630G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.*96G>C MANE Select | ENSP00000311290.2:n.*96G>C | |
| NM_006261.4:c.*96G>C | NP_006252.3:n.*96G>C | |
| NM_006261.5:c.*96G>C MANE Select | NP_006252.4:n.*96G>C |