Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112782435T>G , CM000664.2:g.112782435T>G | GRCh38 |
| NC_000002.11:g.113540012T>G , CM000664.1:g.113540012T>G | GRCh37 |
| NC_000002.10:g.113256483T>G | NCBI36 |
| NG_008850.1:g.7960A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263339.4:c.96+281A>C MANE Select | ENSP00000263339.3:n.96+281A>C | |
| ENST00000263339.3:c.96+281A>C | ENSP00000263339.3:n.96+281A>C | |
| NM_000575.3:c.96+281A>C | NP_000566.3:n.96+281A>C | |
| NM_000575.4:c.96+281A>C | NP_000566.3:n.96+281A>C | |
| NM_000575.5:c.96+281A>C MANE Select | NP_000566.3:n.96+281A>C | |
| NM_001371554.1:c.96+281A>C | NP_001358483.1:n.96+281A>C |