Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038968G>C , CM000670.2:g.63038968G>C | GRCh38 |
| NC_000008.10:g.63951527G>C , CM000670.1:g.63951527G>C | GRCh37 |
| NC_000008.9:g.64114081G>C | NCBI36 |
| NG_028126.1:g.5084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.440C>G | ||
| ENST00000679326.1:c.-200C>G | ENSP00000504262.1:n.-200C>G | |
| ENST00000260118.6:c.-200C>G | ENSP00000260118.6:n.-200C>G | |
| NM_003878.2:c.-200C>G | NP_003869.1:n.-200C>G | |
| XM_011517623.1:c.-200C>G | XP_011515925.1:n.-200C>G |