Linked Data
dbSNP Id:
rs750292450
ExAC:
7:97493560 T / A
gnomAD v2:
7-97493560-T-A
gnomAD v4:
7-97864248-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97864248T>A , CM000669.2:g.97864248T>A | GRCh38 |
| NC_000007.13:g.97493560T>A , CM000669.1:g.97493560T>A | GRCh37 |
| NC_000007.12:g.97331496T>A | NCBI36 |
| NG_033870.1:g.13295A>T | |
| NG_033870.2:g.69315A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394308.8:c.487+11A>T MANE Select | ENSP00000377845.3:n.487+11A>T | |
| ENST00000175506.8:c.487+11A>T | ENSP00000175506.4:n.487+11A>T | |
| ENST00000394308.7:c.487+11A>T | ENSP00000377845.3:n.487+11A>T | |
| ENST00000394309.7:c.487+11A>T | ENSP00000377846.3:n.487+11A>T | |
| ENST00000422745.5:c.424+11A>T | ENSP00000414901.1:n.424+11A>T | |
| ENST00000437628.5:c.238+11A>T | ENSP00000414379.1:n.238+11A>T | |
| ENST00000442734.5:c.487+11A>T | ENSP00000400422.1:n.487+11A>T | |
| ENST00000444334.5:c.424+11A>T | ENSP00000406994.1:n.424+11A>T | |
| ENST00000454046.5:c.487+11A>T | ENSP00000401651.1:n.487+11A>T | |
| ENST00000455086.5:c.238+11A>T | ENSP00000408472.1:n.238+11A>T | |
| ENST00000495255.1:n.526A>T | ||
| NM_001178075.1:c.424+11A>T | NP_001171546.1:n.424+11A>T | |
| NM_001178076.1:c.238+11A>T | NP_001171547.1:n.238+11A>T | |
| NM_001178077.1:c.238+11A>T | NP_001171548.1:n.238+11A>T | |
| NM_001673.4:c.487+11A>T | NP_001664.3:n.487+11A>T | |
| NM_133436.3:c.487+11A>T | NP_597680.2:n.487+11A>T | |
| NM_183356.3:c.487+11A>T | NP_899199.2:n.487+11A>T | |
| NM_001352496.1:c.487+11A>T | NP_001339425.1:n.487+11A>T | |
| NR_147989.1:n.2116+11A>T | ||
| NM_001673.5:c.487+11A>T MANE Select | NP_001664.3:n.487+11A>T | |
| NM_001178075.2:c.424+11A>T | NP_001171546.1:n.424+11A>T | |
| NM_001178076.2:c.238+11A>T | NP_001171547.1:n.238+11A>T | |
| NM_001352496.2:c.487+11A>T | NP_001339425.1:n.487+11A>T | |
| NM_183356.4:c.487+11A>T | NP_899199.2:n.487+11A>T |