Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63039110C>G , CM000670.2:g.63039110C>G | GRCh38 |
| NC_000008.10:g.63951669C>G , CM000670.1:g.63951669C>G | GRCh37 |
| NC_000008.9:g.64114223C>G | NCBI36 |
| NG_028126.1:g.4942G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.298G>C | ||
| ENST00000679326.1:c.-342G>C | ENSP00000504262.1:n.-342G>C | |
| ENST00000260118.6:c.-342G>C | ENSP00000260118.6:n.-342G>C | |
| XM_011517623.1:c.-342G>C | XP_011515925.1:n.-342G>C |