Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352920A>G , CM000666.2:g.99352920A>G | GRCh38 |
| NC_000004.11:g.100274077A>G , CM000666.1:g.100274077A>G | GRCh37 |
| NC_000004.10:g.100493100A>G | NCBI36 |
| NG_011718.1:g.4841T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-245T>C | ENSP00000426083.1:n.-245T>C | |
| NM_000669.4:c.-245T>C | NP_000660.1:n.-245T>C | |
| NR_133005.1:n.126T>C | ||
| XM_011531588.1:c.-245T>C | XP_011529890.1:n.-245T>C | |
| XM_011531589.1:c.-485T>C | XP_011529891.1:n.-485T>C |