Linked Data
ClinVar Variation Id:
135651
dbSNP Id:
rs587780586
gnomAD v4:
12-51765675-G-A
PubMed:
PMID:7751906
PMID:9295353
PMID:9828131
PMID:10745221
PMID:12374766
PMID:16236810
PMID:17881658
PMID:20196795
PMID:22365152
PMID:23020937
PMID:23708187
PMID:23934111
PMID:24352161
PMID:24888894
PMID:25239001
PMID:25326637
PMID:25725044
PMID:25785782
PMID:25799905
PMID:25914188
PMID:26029160
PMID:26220391
PMID:26235739
PMID:26252990
PMID:26677014
PMID:26900580
PMID:26993267
PMID:27270488
PMID:27559564
PMID:28702509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51765675G>A , CM000674.2:g.51765675G>A | GRCh38 |
| NC_000012.11:g.52159459G>A , CM000674.1:g.52159459G>A | GRCh37 |
| NC_000012.10:g.50445726G>A | NCBI36 |
| NG_021180.2:g.179440G>A | |
| NG_021180.3:g.180718G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354534.11:c.2549G>A MANE Plus Clinical | ENSP00000346534.4:p.Arg850Gln | |
| ENST00000548086.3:c.396G>A | ||
| ENST00000627620.5:c.2549G>A MANE Select | ENSP00000487583.2:p.Arg850Gln | |
| ENST00000636945.2:c.553G>A | ||
| ENST00000662684.1:c.2549G>A | ENSP00000499636.1:p.Arg850Gln | |
| ENST00000668547.1:c.2549G>A | ENSP00000499691.1:p.Arg850Gln | |
| ENST00000354534.10:c.2549G>A | ENSP00000346534.4:p.Arg850Gln | |
| ENST00000355133.7:c.2549G>A | ENSP00000347255.4:p.Arg850Gln | |
| ENST00000545061.5:c.2549G>A | ENSP00000440360.1:p.Arg850Gln | |
| ENST00000550891.4:n.2677G>A | ||
| ENST00000599343.5:c.2582G>A | ENSP00000476447.3:p.Arg861Gln | |
| ENST00000627620.2:c.2549G>A | ENSP00000487583.1:p.Arg850Gln | |
| NM_001177984.2:c.2549G>A | NP_001171455.1:p.Arg850Gln | |
| NM_014191.3:c.2549G>A | NP_055006.1:p.Arg850Gln | |
| XM_006719556.2:c.2549G>A | XP_006719619.1:p.Arg850Gln | |
| XM_011538650.1:c.2549G>A | XP_011536952.1:p.Arg850Gln | |
| XM_011538651.1:c.2549G>A | XP_011536953.1:p.Arg850Gln | |
| NM_001330260.1:c.2549G>A | NP_001317189.1:p.Arg850Gln | |
| XM_006719556.4:c.2549G>A | XP_006719619.1:p.Arg850Gln | |
| XM_011538651.3:c.2549G>A | XP_011536953.1:p.Arg850Gln | |
| XM_017019794.2:c.2549G>A | XP_016875283.1:p.Arg850Gln | |
| XM_017019795.2:c.2549G>A | XP_016875284.1:p.Arg850Gln | |
| XM_017019796.1:c.2549G>A | XP_016875285.1:p.Arg850Gln | |
| NM_001330260.2:c.2549G>A MANE Select | NP_001317189.1:p.Arg850Gln | |
| NM_001369788.1:c.2549G>A | NP_001356717.1:p.Arg850Gln | |
| NM_014191.4:c.2549G>A MANE Plus Clinical | NP_055006.1:p.Arg850Gln | |
| NM_001177984.3:c.2549G>A | NP_001171455.1:p.Arg850Gln |