Linked Data
ClinVar Variation Id:
1085912
ClinVar RCV Id:
RCV001403488
dbSNP Id:
rs374507502
ExAC:
21:45753013 C / T
gnomAD v2:
21-45753013-C-T
gnomAD v3:
21-44333130-C-T
gnomAD v4:
21-44333130-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333130C>T , CM000683.2:g.44333130C>T | GRCh38 |
| NC_000021.8:g.45753013C>T , CM000683.1:g.45753013C>T | GRCh37 |
| NC_000021.7:g.44577441C>T | NCBI36 |
| NG_032952.1:g.11273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.276G>A MANE Select | ENSP00000344566.4:p.Leu92= | |
| ENST00000325223.7:c.276G>A | ENSP00000317302.7:p.Leu92= | |
| ENST00000339818.8:c.276G>A | ENSP00000344566.4:p.Leu92= | |
| ENST00000397956.7:c.276G>A | ENSP00000381047.3:p.Leu92= | |
| ENST00000462742.1:n.2447G>A | ||
| ENST00000478674.1:n.335G>A | ||
| ENST00000496321.5:n.392G>A | ||
| NM_001271440.1:c.276G>A | NP_001258369.1:p.Leu92= | |
| NM_001271441.1:c.276G>A | NP_001258370.1:p.Leu92= | |
| NM_001271442.1:c.153G>A | NP_001258371.1:p.Leu51= | |
| NM_004928.2:c.276G>A | NP_004919.1:p.Leu92= | |
| XM_006724051.2:c.351G>A | XP_006724114.1:p.Leu117= | |
| XM_006724052.2:c.351G>A | XP_006724115.1:p.Leu117= | |
| XM_006724053.2:c.-49G>A | XP_006724116.1:n.-49G>A | |
| XR_937571.1:n.479G>A | ||
| XM_006724051.3:c.351G>A | XP_006724114.1:p.Leu117= | |
| XM_006724053.3:c.-49G>A | XP_006724116.1:n.-49G>A | |
| XM_017028470.1:c.480G>A | XP_016883959.1:p.Leu160= | |
| XM_017028471.1:c.225G>A | XP_016883960.1:p.Leu75= | |
| XM_017028472.1:c.-49G>A | XP_016883961.1:n.-49G>A | |
| XR_937571.2:n.486G>A | ||
| NM_004928.3:c.276G>A MANE Select | NP_004919.1:p.Leu92= | |
| NM_001271440.2:c.276G>A | NP_001258369.1:p.Leu92= | |
| NM_001271441.2:c.276G>A | NP_001258370.1:p.Leu92= |