Linked Data
gnomAD v4:
2-112782564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112782564G>A , CM000664.2:g.112782564G>A | GRCh38 |
| NC_000002.11:g.113540141G>A , CM000664.1:g.113540141G>A | GRCh37 |
| NC_000002.10:g.113256612G>A | NCBI36 |
| NG_008850.1:g.7831C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263339.4:c.96+152C>T MANE Select | ENSP00000263339.3:n.96+152C>T | |
| ENST00000263339.3:c.96+152C>T | ENSP00000263339.3:n.96+152C>T | |
| NM_000575.3:c.96+152C>T | NP_000566.3:n.96+152C>T | |
| NM_000575.4:c.96+152C>T | NP_000566.3:n.96+152C>T | |
| NM_000575.5:c.96+152C>T MANE Select | NP_000566.3:n.96+152C>T | |
| NM_001371554.1:c.96+152C>T | NP_001358483.1:n.96+152C>T |