Linked Data
dbSNP Id:
rs2706347
gnomAD v2:
5-131905117-G-T
gnomAD v3:
5-132569425-G-T
gnomAD v4:
5-132569425-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132569425G>T , CM000667.2:g.132569425G>T | GRCh38 |
| NC_000005.9:g.131905117G>T , CM000667.1:g.131905117G>T | GRCh37 |
| NC_000005.8:g.131933016G>T | NCBI36 |
| NG_021151.1:g.17502G>T | |
| NG_021151.2:g.17449G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.214-6352G>T MANE Select | ENSP00000368100.4:n.214-6352G>T | |
| ENST00000638452.2:c.-84-6352G>T | ENSP00000492349.2:n.-84-6352G>T | |
| ENST00000638504.1:n.291-6352G>T | ||
| ENST00000638568.2:c.-84-6352G>T | ENSP00000491158.2:n.-84-6352G>T | |
| ENST00000639899.1:n.374-6352G>T | ||
| ENST00000640655.2:c.-84-6352G>T | ENSP00000491596.2:n.-84-6352G>T | |
| ENST00000651160.1:c.214-6352G>T | ENSP00000498829.1:n.214-6352G>T | |
| ENST00000651541.1:c.-84-6352G>T | ENSP00000498795.1:n.-84-6352G>T | |
| ENST00000651658.1:n.282-6352G>T | ||
| ENST00000651723.1:c.*362-6352G>T | ENSP00000498237.1:n.*362-6352G>T | |
| ENST00000652016.1:c.214-6352G>T | ENSP00000498267.1:n.214-6352G>T | |
| ENST00000652485.1:c.214-6352G>T | ENSP00000498973.1:n.214-6352G>T | |
| ENST00000378823.7:c.214-6352G>T | ENSP00000368100.4:n.214-6352G>T | |
| ENST00000416135.5:c.-84-6352G>T | ENSP00000389515.1:n.-84-6352G>T | |
| ENST00000423956.5:c.214-6352G>T | ENSP00000390971.1:n.214-6352G>T | |
| ENST00000453394.5:c.214-6352G>T | ENSP00000400049.1:n.214-6352G>T | |
| ENST00000533482.5:c.214-6352G>T | ENSP00000431225.1:n.214-6352G>T | |
| NM_005732.3:c.214-6352G>T | NP_005723.2:n.214-6352G>T | |
| NM_005732.4:c.214-6352G>T MANE Select | NP_005723.2:n.214-6352G>T |