Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352882C>G , CM000666.2:g.99352882C>G | GRCh38 |
| NC_000004.11:g.100274039C>G , CM000666.1:g.100274039C>G | GRCh37 |
| NC_000004.10:g.100493062C>G | NCBI36 |
| NG_011718.1:g.4879G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-207G>C | ENSP00000426083.1:n.-207G>C | |
| NM_000669.4:c.-207G>C | NP_000660.1:n.-207G>C | |
| NR_133005.1:n.164G>C | ||
| XM_011531588.1:c.-207G>C | XP_011529890.1:n.-207G>C | |
| XM_011531589.1:c.-447G>C | XP_011529891.1:n.-447G>C |