Linked Data
ClinVar Variation Id:
702985
ClinVar RCV Id:
RCV000872340
dbSNP Id:
rs747762347
ExAC:
20:61981962 C / T
gnomAD v2:
20-61981962-C-T
gnomAD v4:
20-63350610-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350610C>T , CM000682.2:g.63350610C>T | GRCh38 |
| NC_000020.10:g.61981962C>T , CM000682.1:g.61981962C>T | GRCh37 |
| NC_000020.9:g.61452406C>T | NCBI36 |
| NG_011931.1:g.15734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.801G>A MANE Select | ENSP00000359285.4:p.Leu267= | |
| ENST00000370263.8:c.801G>A | ENSP00000359285.4:p.Leu267= | |
| ENST00000463705.5:n.1449G>A | ||
| ENST00000467563.3:n.871G>A | ||
| ENST00000498043.6:c.825G>A | ||
| ENST00000615287.4:c.588G>A | ENSP00000483388.1:p.Leu196= | |
| ENST00000627000.1:c.*490G>A | ENSP00000486914.1:n.*490G>A | |
| ENST00000630240.1:n.522G>A | ||
| NM_000744.6:c.801G>A | NP_000735.1:p.Leu267= | |
| NM_001256573.1:c.273G>A | NP_001243502.1:p.Leu91= | |
| NR_046317.1:n.1057G>A | ||
| XM_011528524.1:c.588G>A | XP_011526826.1:p.Leu196= | |
| XM_017027625.2:c.273G>A | XP_016883114.1:p.Leu91= | |
| XM_024451822.1:c.273G>A | XP_024307590.1:p.Leu91= | |
| NM_001256573.2:c.273G>A | NP_001243502.1:p.Leu91= | |
| NR_046317.2:n.1010G>A | ||
| NM_000744.7:c.801G>A MANE Select | NP_000735.1:p.Leu267= |