Linked Data
dbSNP Id:
rs6741751
gnomAD v2:
2-234827661-G-A
gnomAD v3:
2-233919016-G-A
gnomAD v4:
2-233919016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233919016G>A , CM000664.2:g.233919016G>A | GRCh38 |
| NC_000002.11:g.234827661G>A , CM000664.1:g.234827661G>A | GRCh37 |
| NC_000002.10:g.234492400G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324695.9:c.-6+1584G>A MANE Select | ENSP00000323926.4:n.-6+1584G>A | |
| ENST00000324695.8:c.-6+1584G>A | ENSP00000323926.4:n.-6+1584G>A | |
| ENST00000433712.6:c.-729+1584G>A | ENSP00000404423.3:n.-729+1584G>A | |
| ENST00000444298.5:c.-6+1584G>A | ENSP00000396745.1:n.-6+1584G>A | |
| NM_024080.4:c.-6+1584G>A | NP_076985.4:n.-6+1584G>A | |
| XM_011511810.1:c.-6+1584G>A | XP_011510112.1:n.-6+1584G>A | |
| XM_011511810.2:c.-6+1584G>A | XP_011510112.1:n.-6+1584G>A | |
| NM_024080.5:c.-6+1584G>A MANE Select | NP_076985.4:n.-6+1584G>A | |
| NM_001397606.1:c.-6+1584G>A | NP_001384535.1:n.-6+1584G>A | |
| NM_001397608.1:c.-6+1584G>A | NP_001384537.1:n.-6+1584G>A | |
| NM_001397626.1:c.-6+1584G>A | NP_001384555.1:n.-6+1584G>A |