Linked Data
dbSNP Id:
rs13034723
gnomAD v2:
2-190985680-G-A
gnomAD v3:
2-190120954-G-A
gnomAD v4:
2-190120954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190120954G>A , CM000664.2:g.190120954G>A | GRCh38 |
| NC_000002.11:g.190985680G>A , CM000664.1:g.190985680G>A | GRCh37 |
| NC_000002.10:g.190693925G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450357.5:c.-290+29984G>A | ENSP00000394370.1:n.-290+29984G>A | |
| ENST00000490033.5:n.226+25352G>A | ||
| ENST00000495546.1:n.271+40931G>A | ||
| XM_005246905.1:c.-290+40931G>A | XP_005246962.1:n.-290+40931G>A | |
| XM_011511982.1:c.-290+29984G>A | XP_011510284.1:n.-290+29984G>A | |
| XM_011511983.1:c.-290+25352G>A | XP_011510285.1:n.-290+25352G>A | |
| XM_011511984.1:c.-290+25352G>A | XP_011510286.1:n.-290+25352G>A | |
| XM_011511985.1:c.-290+29984G>A | XP_011510287.1:n.-290+29984G>A | |
| XM_011511986.1:c.-165+40931G>A | XP_011510288.1:n.-165+40931G>A | |
| XM_011511984.3:c.-290+25352G>A | XP_011510286.1:n.-290+25352G>A | |
| XM_011511985.3:c.-290+29984G>A | XP_011510287.1:n.-290+29984G>A | |
| XM_011511986.2:c.-165+40931G>A | XP_011510288.1:n.-165+40931G>A |