Linked Data
ClinVar Variation Id:
225100
dbSNP Id:
rs869312966
PubMed:
PMID:7751906
PMID:9295353
PMID:9828131
PMID:10745221
PMID:16236810
PMID:20196795
PMID:22365152
PMID:23020937
PMID:23708187
PMID:23934111
PMID:24352161
PMID:24888894
PMID:25239001
PMID:25725044
PMID:25785782
PMID:25799905
PMID:25914188
PMID:26029160
PMID:26220391
PMID:26252990
PMID:26677014
PMID:26900580
PMID:26993267
PMID:27270488
PMID:28702509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51806345G>T , CM000674.2:g.51806345G>T | GRCh38 |
| NC_000012.11:g.52200129G>T , CM000674.1:g.52200129G>T | GRCh37 |
| NC_000012.10:g.50486396G>T | NCBI36 |
| NG_021180.2:g.220110G>T | |
| NG_021180.3:g.221388G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.4859G>T MANE Plus Clinical | ENSP00000346534.4:p.Arg1620Leu | |
| ENST00000627620.5:c.4859G>T MANE Select | ENSP00000487583.2:p.Arg1620Leu | |
| ENST00000636945.2:c.2923G>T | ||
| ENST00000662684.1:c.4859G>T | ENSP00000499636.1:p.Arg1620Leu | |
| ENST00000668547.1:c.4736G>T | ENSP00000499691.1:p.Arg1579Leu | |
| ENST00000354534.10:c.4859G>T | ENSP00000346534.4:p.Arg1620Leu | |
| ENST00000355133.7:c.4736G>T | ENSP00000347255.4:p.Arg1579Leu | |
| ENST00000545061.5:c.4736G>T | ENSP00000440360.1:p.Arg1579Leu | |
| ENST00000599343.5:c.4892G>T | ENSP00000476447.3:p.Arg1631Leu | |
| ENST00000627620.2:c.4859G>T | ENSP00000487583.1:p.Arg1620Leu | |
| NM_001177984.2:c.4736G>T | NP_001171455.1:p.Arg1579Leu | |
| NM_014191.3:c.4859G>T | NP_055006.1:p.Arg1620Leu | |
| XM_006719556.2:c.4859G>T | XP_006719619.1:p.Arg1620Leu | |
| XM_011538650.1:c.4859G>T | XP_011536952.1:p.Arg1620Leu | |
| XM_011538651.1:c.4859G>T | XP_011536953.1:p.Arg1620Leu | |
| NM_001330260.1:c.4859G>T | NP_001317189.1:p.Arg1620Leu | |
| XM_006719556.4:c.4859G>T | XP_006719619.1:p.Arg1620Leu | |
| XM_011538651.3:c.4859G>T | XP_011536953.1:p.Arg1620Leu | |
| XM_017019794.2:c.4859G>T | XP_016875283.1:p.Arg1620Leu | |
| XM_017019795.2:c.4736G>T | XP_016875284.1:p.Arg1579Leu | |
| NM_001330260.2:c.4859G>T MANE Select | NP_001317189.1:p.Arg1620Leu | |
| NM_001369788.1:c.4736G>T | NP_001356717.1:p.Arg1579Leu | |
| NM_014191.4:c.4859G>T MANE Plus Clinical | NP_055006.1:p.Arg1620Leu | |
| NM_001177984.3:c.4736G>T | NP_001171455.1:p.Arg1579Leu |