Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112782550A>G , CM000664.2:g.112782550A>G | GRCh38 |
| NC_000002.11:g.113540127A>G , CM000664.1:g.113540127A>G | GRCh37 |
| NC_000002.10:g.113256598A>G | NCBI36 |
| NG_008850.1:g.7845T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263339.4:c.96+166T>C MANE Select | ENSP00000263339.3:n.96+166T>C | |
| ENST00000263339.3:c.96+166T>C | ENSP00000263339.3:n.96+166T>C | |
| NM_000575.3:c.96+166T>C | NP_000566.3:n.96+166T>C | |
| NM_000575.4:c.96+166T>C | NP_000566.3:n.96+166T>C | |
| NM_000575.5:c.96+166T>C MANE Select | NP_000566.3:n.96+166T>C | |
| NM_001371554.1:c.96+166T>C | NP_001358483.1:n.96+166T>C |