Linked Data
ClinVar Variation Id:
282181
dbSNP Id:
rs782057378
ExAC:
X:153609454 G / T
gnomAD v2:
X-153609454-G-T
gnomAD v3:
X-154381094-G-T
gnomAD v4:
X-154381094-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154381094G>T , CM000685.2:g.154381094G>T | GRCh38 |
| NC_000023.10:g.153609454G>T , CM000685.1:g.153609454G>T | GRCh37 |
| NC_000023.9:g.153262648G>T | NCBI36 |
| NG_008677.1:g.11659G>T , LRG_745:g.11659G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.572+90G>T | ENSP00000507245.1:n.572+90G>T | |
| ENST00000682478.1:n.762+90G>T | ||
| ENST00000683576.1:n.852G>T | ||
| ENST00000683627.1:c.662G>T | ENSP00000507533.1:p.Arg221Leu | |
| ENST00000684082.1:c.619G>T | ENSP00000508266.1:n.619G>T | |
| ENST00000684633.1:n.634G>T | ||
| ENST00000684678.1:c.568+90G>T | ENSP00000507059.1:n.568+90G>T | |
| ENST00000369842.9:c.662G>T MANE Select | ENSP00000358857.4:p.Arg221Leu | |
| ENST00000369835.3:c.557G>T | ENSP00000358850.3:p.Arg186Leu | |
| ENST00000369842.8:c.662G>T | ENSP00000358857.4:p.Arg221Leu | |
| ENST00000428228.5:c.*567G>T | ENSP00000401081.1:n.*567G>T | |
| ENST00000471965.1:n.451G>T | ||
| ENST00000486738.5:n.1099G>T | ||
| ENST00000492448.1:n.645G>T | ||
| NM_000117.2:c.662G>T , LRG_745t1:c.662G>T | NP_000108.1:p.Arg221Leu | |
| XM_024452349.1:c.668G>T | XP_024308117.1:p.Arg223Leu | |
| NM_000117.3:c.662G>T MANE Select | NP_000108.1:p.Arg221Leu |