Linked Data
ClinVar Variation Id:
167677
dbSNP Id:
rs143570936
ExAC:
17:48246607 G / A
gnomAD v2:
17-48246607-G-A
gnomAD v3:
17-50169246-G-A
gnomAD v4:
17-50169246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50169246G>A , CM000679.2:g.50169246G>A | GRCh38 |
| NC_000017.10:g.48246607G>A , CM000679.1:g.48246607G>A | GRCh37 |
| NC_000017.9:g.45601606G>A | NCBI36 |
| NG_008889.1:g.8242G>A , LRG_203:g.8242G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504073.2:c.597+142G>A | ENSP00000422030.2:n.597+142G>A | |
| ENST00000511303.6:n.309+674G>A | ||
| ENST00000512526.2:c.575+674G>A | ENSP00000426606.2:n.575+674G>A | |
| ENST00000682109.1:c.619G>A | ENSP00000508041.1:p.Val207Met | |
| ENST00000683226.1:n.449G>A | ||
| ENST00000683294.1:c.739G>A | ENSP00000508134.1:p.Val247Met | |
| ENST00000262018.8:c.739G>A MANE Select | ENSP00000262018.3:p.Val247Met | |
| ENST00000262018.7:c.739G>A | ENSP00000262018.3:p.Val247Met | |
| ENST00000344627.10:c.584+674G>A | ENSP00000345522.6:n.584+674G>A | |
| ENST00000502555.5:c.*398G>A | ENSP00000422817.1:n.*398G>A | |
| ENST00000504073.1:c.64+142G>A | ||
| ENST00000511303.5:c.305+674G>A | ENSP00000426104.1:n.305+674G>A | |
| ENST00000512526.1:c.419+674G>A | ||
| ENST00000513821.5:c.739G>A | ENSP00000426571.1:p.Val247Met | |
| ENST00000513942.5:n.375+674G>A | ||
| NM_000023.2:c.739G>A , LRG_203t1:c.739G>A | NP_000014.1:p.Val247Met | |
| NM_001135697.1:c.584+674G>A | NP_001129169.1:n.584+674G>A | |
| XM_011525120.1:c.739G>A | XP_011523422.1:p.Val247Met | |
| XM_011525121.1:c.597+142G>A | XP_011523423.1:n.597+142G>A | |
| XM_011525122.1:c.739G>A | XP_011523424.1:p.Val247Met | |
| XM_011525123.1:c.584+674G>A | XP_011523425.1:n.584+674G>A | |
| XM_011525124.1:c.433G>A | XP_011523426.1:p.Val145Met | |
| XR_934517.1:n.805G>A | ||
| NM_000023.3:c.739G>A | NP_000014.1:p.Val247Met | |
| NM_001135697.2:c.584+674G>A | NP_001129169.1:n.584+674G>A | |
| NR_135553.1:n.795G>A | ||
| XM_011525120.2:c.901G>A | XP_011523422.2:p.Val301Met | |
| XM_011525121.2:c.759+142G>A | XP_011523423.2:n.759+142G>A | |
| XM_011525122.2:c.901G>A | XP_011523424.2:p.Val301Met | |
| XM_011525123.2:c.746+674G>A | XP_011523425.2:n.746+674G>A | |
| XM_011525124.2:c.433G>A | XP_011523426.1:p.Val145Met | |
| XM_024450873.1:c.433G>A | XP_024306641.1:p.Val145Met | |
| XR_002958056.1:n.1257G>A | ||
| NM_000023.4:c.739G>A MANE Select | NP_000014.1:p.Val247Met | |
| NM_001135697.3:c.584+674G>A | NP_001129169.1:n.584+674G>A | |
| NR_135553.2:n.775G>A |