Linked Data
dbSNP Id:
rs1167880431
gnomAD v2:
2-28999926-T-A
gnomAD v3:
2-28777060-T-A
gnomAD v4:
2-28777060-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28777060T>A , CM000664.2:g.28777060T>A | GRCh38 |
| NC_000002.11:g.28999926T>A , CM000664.1:g.28999926T>A | GRCh37 |
| NC_000002.10:g.28853430T>A | NCBI36 |
| NG_052878.1:g.30313T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418910.2:c.184+78T>A | ENSP00000388056.2:n.184+78T>A | |
| ENST00000420282.6:c.184+78T>A | ENSP00000398839.2:n.184+78T>A | |
| ENST00000427786.2:c.100+78T>A | ENSP00000394589.1:n.100+78T>A | |
| ENST00000441461.6:c.184+78T>A | ENSP00000414918.2:n.184+78T>A | |
| ENST00000455580.6:c.100+78T>A | ENSP00000390715.2:n.100+78T>A | |
| ENST00000703171.1:c.184+78T>A | ENSP00000515217.1:n.184+78T>A | |
| ENST00000703172.1:c.100+78T>A | ENSP00000515218.1:n.100+78T>A | |
| ENST00000703173.1:c.184+78T>A | ENSP00000515219.1:n.184+78T>A | |
| ENST00000703174.1:c.184+78T>A | ENSP00000515220.1:n.184+78T>A | |
| ENST00000703176.1:c.151+78T>A | ENSP00000515221.1:n.151+78T>A | |
| ENST00000703177.1:c.100+78T>A | ENSP00000515222.1:n.100+78T>A | |
| ENST00000395366.3:c.184+78T>A MANE Select | ENSP00000378769.2:n.184+78T>A | |
| ENST00000296122.10:c.184+78T>A | ENSP00000296122.6:n.184+78T>A | |
| ENST00000358506.6:c.184+78T>A | ENSP00000351298.2:n.184+78T>A | |
| ENST00000395366.2:c.184+78T>A | ENSP00000378769.2:n.184+78T>A | |
| ENST00000420282.5:c.184+78T>A | ENSP00000398839.1:n.184+78T>A | |
| ENST00000427786.1:c.100+78T>A | ENSP00000394589.1:n.100+78T>A | |
| ENST00000441461.5:c.184+78T>A | ENSP00000414918.1:n.184+78T>A | |
| ENST00000455580.5:c.100+78T>A | ENSP00000390715.1:n.100+78T>A | |
| ENST00000464273.1:n.376T>A | ||
| NM_002709.2:c.184+78T>A | NP_002700.1:n.184+78T>A | |
| NM_206876.1:c.184+78T>A | NP_996759.1:n.184+78T>A | |
| NM_002709.3:c.184+78T>A MANE Select | NP_002700.1:n.184+78T>A | |
| NM_206876.2:c.184+78T>A | NP_996759.1:n.184+78T>A |