Linked Data
gnomAD v4:
2-112782578-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112782578T>C , CM000664.2:g.112782578T>C | GRCh38 |
| NC_000002.11:g.113540155T>C , CM000664.1:g.113540155T>C | GRCh37 |
| NC_000002.10:g.113256626T>C | NCBI36 |
| NG_008850.1:g.7817A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263339.4:c.96+138A>G MANE Select | ENSP00000263339.3:n.96+138A>G | |
| ENST00000263339.3:c.96+138A>G | ENSP00000263339.3:n.96+138A>G | |
| NM_000575.3:c.96+138A>G | NP_000566.3:n.96+138A>G | |
| NM_000575.4:c.96+138A>G | NP_000566.3:n.96+138A>G | |
| NM_000575.5:c.96+138A>G MANE Select | NP_000566.3:n.96+138A>G | |
| NM_001371554.1:c.96+138A>G | NP_001358483.1:n.96+138A>G |