Linked Data
ClinVar Variation Id:
189065
dbSNP Id:
rs370950728
ExAC:
17:78079656 G / A
gnomAD v2:
17-78079656-G-A
gnomAD v3:
17-80105857-G-A
gnomAD v4:
17-80105857-G-A
PubMed:
PMID:11738358
PMID:14695532
PMID:18429042
PMID:18995995
PMID:19862843
PMID:21637107
PMID:23266370
PMID:23601496
PMID:23787031
PMID:23891399
PMID:24844452
PMID:25037089
ERepo:
CA274334/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105857G>A , CM000679.2:g.80105857G>A | GRCh38 |
| NC_000017.10:g.78079656G>A , CM000679.1:g.78079656G>A | GRCh37 |
| NC_000017.9:g.75694251G>A | NCBI36 |
| NG_009822.1:g.9302G>A , LRG_673:g.9302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.655G>A | ENSP00000460543.2:p.Gly219Arg | |
| ENST00000572080.2:c.655G>A | ENSP00000459972.2:p.Gly219Arg | |
| ENST00000577106.6:c.655G>A | ENSP00000458306.2:p.Gly219Arg | |
| ENST00000302262.8:c.655G>A MANE Select | ENSP00000305692.3:p.Gly219Arg | |
| ENST00000302262.7:c.655G>A | ENSP00000305692.3:p.Gly219Arg | |
| ENST00000390015.7:c.655G>A | ENSP00000374665.3:p.Gly219Arg | |
| ENST00000570803.5:c.655G>A | ENSP00000460543.1:p.Gly219Arg | |
| NM_000152.3:c.655G>A , LRG_673t1:c.655G>A | NP_000143.2:p.Gly219Arg | |
| NM_001079803.1:c.655G>A | NP_001073271.1:p.Gly219Arg | |
| NM_001079804.1:c.655G>A | NP_001073272.1:p.Gly219Arg | |
| XM_005257193.1:c.655G>A | XP_005257250.1:p.Gly219Arg | |
| XM_005257194.3:c.655G>A | XP_005257251.1:p.Gly219Arg | |
| NM_000152.4:c.655G>A | NP_000143.2:p.Gly219Arg | |
| NM_001079803.2:c.655G>A | NP_001073271.1:p.Gly219Arg | |
| NM_001079804.2:c.655G>A | NP_001073272.1:p.Gly219Arg | |
| XM_005257193.2:c.655G>A | XP_005257250.1:p.Gly219Arg | |
| XM_005257194.4:c.655G>A | XP_005257251.1:p.Gly219Arg | |
| NM_000152.5:c.655G>A MANE Select | NP_000143.2:p.Gly219Arg | |
| NM_001079803.3:c.655G>A | NP_001073271.1:p.Gly219Arg | |
| NM_001079804.3:c.655G>A | NP_001073272.1:p.Gly219Arg |