Linked Data
dbSNP Id:
rs1177328691
gnomAD v2:
11-62904933-C-A
gnomAD v3:
11-63137461-C-A
gnomAD v4:
11-63137461-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63137461C>A , CM000673.2:g.63137461C>A | GRCh38 |
| NC_000011.9:g.62904933C>A , CM000673.1:g.62904933C>A | GRCh37 |
| NC_000011.8:g.62661509C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326192.5:c.403-2693G>T | ENSP00000321549.5:n.403-2693G>T | |
| ENST00000417740.5:c.403-2693G>T | ENSP00000396586.1:n.403-2693G>T | |
| ENST00000612278.4:c.403-2693G>T MANE Select | ENSP00000480336.1:n.403-2693G>T | |
| NM_001136506.2:c.403-2693G>T MANE Select | NP_001129978.2:n.403-2693G>T | |
| NM_173586.2:c.403-2693G>T | NP_775857.2:n.403-2693G>T | |
| XM_011544964.1:c.403-2693G>T | XP_011543266.1:n.403-2693G>T | |
| XM_011544965.1:c.403-2693G>T | XP_011543267.1:n.403-2693G>T | |
| XM_011544966.1:c.403-2693G>T | XP_011543268.1:n.403-2693G>T | |
| XM_011544967.1:c.403-2693G>T | XP_011543269.1:n.403-2693G>T | |
| NM_173586.3:c.403-2693G>T | NP_775857.2:n.403-2693G>T |