Linked Data
ClinVar Variation Id:
1754908
dbSNP Id:
rs990641041
gnomAD v3:
15-38349507-T-A
gnomAD v4:
15-38349507-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38349507T>A , CM000677.2:g.38349507T>A | GRCh38 |
| NC_000015.9:g.38641708T>A , CM000677.1:g.38641708T>A | GRCh37 |
| NC_000015.8:g.36429000T>A | NCBI36 |
| NG_008980.1:g.101657T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.668T>A MANE Select | ENSP00000299084.4:p.Leu223Gln | |
| ENST00000299084.8:c.668T>A | ENSP00000299084.4:p.Leu223Gln | |
| NM_152594.2:c.668T>A | NP_689807.1:p.Leu223Gln | |
| XM_005254202.2:c.704T>A | XP_005254259.1:p.Leu235Gln | |
| XM_005254203.3:c.446T>A | XP_005254260.1:p.Leu149Gln | |
| XM_011521288.1:c.605T>A | XP_011519590.1:p.Leu202Gln | |
| XM_011521289.1:c.605T>A | XP_011519591.1:p.Leu202Gln | |
| XM_011521290.1:c.605T>A | XP_011519592.1:p.Leu202Gln | |
| XM_005254202.3:c.704T>A | XP_005254259.1:p.Leu235Gln | |
| XM_011521289.3:c.605T>A | XP_011519591.1:p.Leu202Gln | |
| NM_152594.3:c.668T>A MANE Select | NP_689807.1:p.Leu223Gln |