Linked Data
dbSNP Id:
rs1842164455
gnomAD v3:
10-62813420-C-T
gnomAD v4:
10-62813420-C-T
MyVariant Identifiers:
chr10:g.64573180C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62813420C>T , CM000672.2:g.62813420C>T | GRCh38 |
| NC_000010.10:g.64573180C>T , CM000672.1:g.64573180C>T | GRCh37 |
| NC_000010.9:g.64243186C>T | NCBI36 |
| NG_008936.2:g.111481G>A , LRG_239:g.111481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411732.4:c.1068G>A | ENSP00000387634.1:p.Lys356= | |
| ENST00000439032.6:c.1758G>A | ENSP00000509775.1:n.1758G>A | |
| ENST00000637191.2:c.1218G>A | ENSP00000490154.2:p.Lys406= | |
| ENST00000690143.1:c.*1150G>A | ENSP00000510306.1:n.*1150G>A | |
| ENST00000691610.1:c.1257G>A | ENSP00000509830.1:p.Lys419= | |
| ENST00000242480.4:c.1218G>A MANE Select | ENSP00000242480.3:p.Lys406= | |
| ENST00000411732.3:c.1068G>A | ENSP00000387634.1:p.Lys356= | |
| ENST00000639815.1:n.109-458G>A | ||
| ENST00000242480.3:c.1218G>A | ENSP00000242480.3:p.Lys406= | |
| ENST00000411732.2:c.1068G>A | ENSP00000387634.1:p.Lys356= | |
| ENST00000439032.4:c.1218G>A | ENSP00000402040.1:p.Lys406= | |
| NM_000399.3:c.1218G>A , LRG_239t1:c.1218G>A | NP_000390.2:p.Lys406= | |
| NM_001136177.1:c.1218G>A | NP_001129649.1:p.Lys406= | |
| NM_001136178.1:c.1218G>A | NP_001129650.1:p.Lys406= | |
| NM_001136179.1:c.1068G>A | NP_001129651.1:p.Lys356= | |
| XM_011539427.1:c.1257G>A | XP_011537729.1:p.Lys419= | |
| XM_011539428.1:c.1068G>A | XP_011537730.1:p.Lys356= | |
| XM_011539429.1:c.1068G>A | XP_011537731.1:p.Lys356= | |
| NM_000399.4:c.1218G>A | NP_000390.2:p.Lys406= | |
| NM_001136177.2:c.1218G>A | NP_001129649.1:p.Lys406= | |
| NM_001136179.2:c.1068G>A | NP_001129651.1:p.Lys356= | |
| NM_001321037.1:c.1068G>A | NP_001307966.1:p.Lys356= | |
| NM_000399.5:c.1218G>A MANE Select | NP_000390.2:p.Lys406= | |
| NM_001136177.3:c.1218G>A | NP_001129649.1:p.Lys406= | |
| NM_001136179.3:c.1068G>A | NP_001129651.1:p.Lys356= | |
| NM_001321037.2:c.1068G>A | NP_001307966.1:p.Lys356= | |
| NM_001136178.2:c.1218G>A | NP_001129650.1:p.Lys406= |