Linked Data
dbSNP Id:
rs11123610
gnomAD v2:
2-3723026-G-A
gnomAD v3:
2-3675436-G-A
gnomAD v4:
2-3675436-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3675436G>A , CM000664.2:g.3675436G>A | GRCh38 |
| NC_000002.11:g.3723026G>A , CM000664.1:g.3723026G>A | GRCh37 |
| NC_000002.10:g.3700901G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252505.4:c.84+1311G>A MANE Select | ENSP00000252505.3:n.84+1311G>A | |
| ENST00000252505.3:c.84+1311G>A | ENSP00000252505.3:n.84+1311G>A | |
| NM_018436.3:c.84+1311G>A | NP_060906.3:n.84+1311G>A | |
| XM_011510369.1:c.-52+1311G>A | XP_011508671.1:n.-52+1311G>A | |
| XM_011510370.1:c.-240+1311G>A | XP_011508672.1:n.-240+1311G>A | |
| XM_011510371.1:c.-363+1311G>A | XP_011508673.1:n.-363+1311G>A | |
| XM_011510369.2:c.-52+1311G>A | XP_011508671.1:n.-52+1311G>A | |
| XM_011510370.2:c.-240+1311G>A | XP_011508672.1:n.-240+1311G>A | |
| XM_017004495.1:c.288+1311G>A | XP_016859984.1:n.288+1311G>A | |
| NM_018436.4:c.84+1311G>A MANE Select | NP_060906.3:n.84+1311G>A |