Linked Data
ClinVar Variation Id:
350296
ClinVar RCV Id:
RCV001567630
dbSNP Id:
rs148831021
ExAC:
5:110428037 G / A
gnomAD v2:
5-110428037-G-A
gnomAD v3:
5-111092339-G-A
gnomAD v4:
5-111092339-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111092339G>A , CM000667.2:g.111092339G>A | GRCh38 |
| NC_000005.9:g.110428037G>A , CM000667.1:g.110428037G>A | GRCh37 |
| NC_000005.8:g.110455936G>A | NCBI36 |
| NG_008979.1:g.5168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505303.5:n.19G>A | ||
| ENST00000506538.6:c.51G>A | ENSP00000423067.2:p.Pro17= | |
| ENST00000513710.3:c.-118G>A | ENSP00000424628.3:n.-118G>A | |
| ENST00000612402.4:c.51G>A | ENSP00000479950.1:p.Pro17= | |
| NM_139281.2:c.51G>A | NP_644810.1:p.Pro17= | |
| XM_011543163.1:c.51G>A | XP_011541465.1:p.Pro17= |