Linked Data
ClinVar Variation Id:
380716
ClinVar RCV Id:
RCV000429409
dbSNP Id:
rs1057520889
gnomAD v2:
20-61981698-C-T
gnomAD v3:
20-63350346-C-T
gnomAD v4:
20-63350346-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350346C>T , CM000682.2:g.63350346C>T | GRCh38 |
| NC_000020.10:g.61981698C>T , CM000682.1:g.61981698C>T | GRCh37 |
| NC_000020.9:g.61452142C>T | NCBI36 |
| NG_011931.1:g.15998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1065G>A MANE Select | ENSP00000359285.4:p.Leu355= | |
| ENST00000370263.8:c.1065G>A | ENSP00000359285.4:p.Leu355= | |
| ENST00000463705.5:n.1713G>A | ||
| ENST00000467563.3:n.1135G>A | ||
| ENST00000498043.6:c.1089G>A | ||
| ENST00000615287.4:c.852G>A | ENSP00000483388.1:p.Leu284= | |
| ENST00000627000.1:c.*754G>A | ENSP00000486914.1:n.*754G>A | |
| ENST00000630240.1:n.786G>A | ||
| NM_000744.6:c.1065G>A | NP_000735.1:p.Leu355= | |
| NM_001256573.1:c.537G>A | NP_001243502.1:p.Leu179= | |
| NR_046317.1:n.1321G>A | ||
| XM_011528524.1:c.852G>A | XP_011526826.1:p.Leu284= | |
| XM_017027625.2:c.537G>A | XP_016883114.1:p.Leu179= | |
| XM_024451822.1:c.537G>A | XP_024307590.1:p.Leu179= | |
| NM_001256573.2:c.537G>A | NP_001243502.1:p.Leu179= | |
| NR_046317.2:n.1274G>A | ||
| NM_000744.7:c.1065G>A MANE Select | NP_000735.1:p.Leu355= |