Linked Data
ClinVar Variation Id:
558916
ClinVar RCV Id:
RCV000675674
dbSNP Id:
rs9897526
ExAC:
17:42426940 G / A
gnomAD v2:
17-42426940-G-A
gnomAD v3:
17-44349572-G-A
gnomAD v4:
17-44349572-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44349572G>A , CM000679.2:g.44349572G>A | GRCh38 |
| NC_000017.10:g.42426940G>A , CM000679.1:g.42426940G>A | GRCh37 |
| NC_000017.9:g.39782466G>A | NCBI36 |
| NG_007886.1:g.9450G>A , LRG_661:g.9450G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000053867.8:c.264+21G>A MANE Select | ENSP00000053867.2:n.264+21G>A | |
| ENST00000639447.1:c.264+21G>A | ENSP00000492014.1:n.264+21G>A | |
| ENST00000053867.7:c.264+21G>A | ENSP00000053867.2:n.264+21G>A | |
| ENST00000586782.5:c.264+21G>A | ENSP00000468318.1:n.264+21G>A | |
| ENST00000587387.5:c.264+21G>A | ENSP00000467431.1:n.264+21G>A | |
| ENST00000587518.5:c.264+21G>A | ENSP00000465518.1:n.264+21G>A | |
| ENST00000587958.1:n.321G>A | ||
| ENST00000588143.5:c.264+21G>A | ENSP00000465375.1:n.264+21G>A | |
| ENST00000588170.5:n.360+21G>A | ||
| ENST00000588237.5:c.264+21G>A | ENSP00000466611.1:n.264+21G>A | |
| ENST00000589265.5:c.264+21G>A | ENSP00000467616.1:n.264+21G>A | |
| ENST00000589536.5:c.264+21G>A | ENSP00000466956.1:n.264+21G>A | |
| ENST00000591740.5:c.264+21G>A | ENSP00000467022.1:n.264+21G>A | |
| ENST00000592323.5:n.427+21G>A | ||
| ENST00000592783.5:c.264+21G>A | ENSP00000467870.1:n.264+21G>A | |
| ENST00000593167.5:c.264+21G>A | ENSP00000466405.1:n.264+21G>A | |
| NM_002087.3:c.264+21G>A | NP_002078.1:n.264+21G>A | |
| XM_005257253.1:c.264+21G>A | XP_005257310.1:n.264+21G>A | |
| XM_024450730.1:c.264+21G>A | XP_024306498.1:n.264+21G>A | |
| NM_002087.4:c.264+21G>A MANE Select | NP_002078.1:n.264+21G>A |