Linked Data
ClinVar Variation Id:
2134204
ClinVar RCV Id:
RCV003065819
dbSNP Id:
rs1315507965
gnomAD v2:
20-61981807-A-T
gnomAD v3:
20-63350455-A-T
gnomAD v4:
20-63350455-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350455A>T , CM000682.2:g.63350455A>T | GRCh38 |
| NC_000020.10:g.61981807A>T , CM000682.1:g.61981807A>T | GRCh37 |
| NC_000020.9:g.61452251A>T | NCBI36 |
| NG_011931.1:g.15889T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.956T>A MANE Select | ENSP00000359285.4:p.Leu319Gln | |
| ENST00000370263.8:c.956T>A | ENSP00000359285.4:p.Leu319Gln | |
| ENST00000463705.5:n.1604T>A | ||
| ENST00000467563.3:n.1026T>A | ||
| ENST00000498043.6:c.980T>A | ||
| ENST00000615287.4:c.743T>A | ENSP00000483388.1:p.Leu248Gln | |
| ENST00000627000.1:c.*645T>A | ENSP00000486914.1:n.*645T>A | |
| ENST00000630240.1:n.677T>A | ||
| NM_000744.6:c.956T>A | NP_000735.1:p.Leu319Gln | |
| NM_001256573.1:c.428T>A | NP_001243502.1:p.Leu143Gln | |
| NR_046317.1:n.1212T>A | ||
| XM_011528524.1:c.743T>A | XP_011526826.1:p.Leu248Gln | |
| XM_017027625.2:c.428T>A | XP_016883114.1:p.Leu143Gln | |
| XM_024451822.1:c.428T>A | XP_024307590.1:p.Leu143Gln | |
| NM_001256573.2:c.428T>A | NP_001243502.1:p.Leu143Gln | |
| NR_046317.2:n.1165T>A | ||
| NM_000744.7:c.956T>A MANE Select | NP_000735.1:p.Leu319Gln |