Linked Data
dbSNP Id:
rs1609682
gnomAD v2:
2-113540205-G-T
gnomAD v3:
2-112782628-G-T
gnomAD v4:
2-112782628-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112782628G>T , CM000664.2:g.112782628G>T | GRCh38 |
| NC_000002.11:g.113540205G>T , CM000664.1:g.113540205G>T | GRCh37 |
| NC_000002.10:g.113256676G>T | NCBI36 |
| NG_008850.1:g.7767C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263339.4:c.96+88C>A MANE Select | ENSP00000263339.3:n.96+88C>A | |
| ENST00000263339.3:c.96+88C>A | ENSP00000263339.3:n.96+88C>A | |
| NM_000575.3:c.96+88C>A | NP_000566.3:n.96+88C>A | |
| NM_000575.4:c.96+88C>A | NP_000566.3:n.96+88C>A | |
| NM_000575.5:c.96+88C>A MANE Select | NP_000566.3:n.96+88C>A | |
| NM_001371554.1:c.96+88C>A | NP_001358483.1:n.96+88C>A |