Linked Data
ClinVar Variation Id:
1077574
ClinVar RCV Id:
RCV001392189
dbSNP Id:
rs1053814127
gnomAD v3:
21-34887100-C-T
gnomAD v4:
21-34887100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34887100C>T , CM000683.2:g.34887100C>T | GRCh38 |
| NC_000021.8:g.36259397C>T , CM000683.1:g.36259397C>T | GRCh37 |
| NC_000021.7:g.35181267C>T | NCBI36 |
| NG_011402.2:g.1102612G>A , LRG_482:g.1102612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.98-4G>A MANE Select | ENSP00000501943.1:n.98-4G>A | |
| ENST00000300305.7:c.98-4G>A | ENSP00000300305.3:n.98-4G>A | |
| ENST00000344691.8:c.13G>A | ENSP00000340690.4:p.Val5Ile | |
| ENST00000358356.9:c.13G>A | ENSP00000351123.5:p.Val5Ile | |
| ENST00000399237.6:c.62-4G>A | ENSP00000382182.2:n.62-4G>A | |
| ENST00000399240.5:c.13G>A | ENSP00000382184.1:p.Val5Ile | |
| ENST00000437180.5:c.98-4G>A | ENSP00000409227.1:n.98-4G>A | |
| ENST00000455571.5:c.59-4G>A | ENSP00000388189.1:n.59-4G>A | |
| ENST00000475045.6:c.98-4G>A | ENSP00000477072.1:n.98-4G>A | |
| ENST00000482318.5:c.59-6387G>A | ENSP00000477067.1:n.59-6387G>A | |
| NM_001001890.2:c.13G>A | NP_001001890.1:p.Val5Ile | |
| NM_001122607.1:c.13G>A | NP_001116079.1:p.Val5Ile | |
| NM_001754.4:c.98-4G>A , LRG_482t1:c.98-4G>A | NP_001745.2:n.98-4G>A | |
| XM_005261068.3:c.62-4G>A | XP_005261125.1:n.62-4G>A | |
| XM_005261069.3:c.98-4G>A | XP_005261126.1:n.98-4G>A | |
| XM_011529766.1:c.98-4G>A | XP_011528068.1:n.98-4G>A | |
| XM_011529767.1:c.59-4G>A | XP_011528069.1:n.59-4G>A | |
| XM_011529768.1:c.59-4G>A | XP_011528070.1:n.59-4G>A | |
| XM_011529770.1:c.98-4G>A | XP_011528072.1:n.98-4G>A | |
| XR_937576.1:n.277-4G>A | ||
| XM_005261069.4:c.98-4G>A | XP_005261126.1:n.98-4G>A | |
| XM_011529766.2:c.98-4G>A | XP_011528068.1:n.98-4G>A | |
| XM_011529767.2:c.59-4G>A | XP_011528069.1:n.59-4G>A | |
| XM_011529768.2:c.59-4G>A | XP_011528070.1:n.59-4G>A | |
| XM_011529770.2:c.98-4G>A | XP_011528072.1:n.98-4G>A | |
| XM_017028487.1:c.-56-4G>A | XP_016883976.1:n.-56-4G>A | |
| XR_937576.2:n.324-4G>A | ||
| NM_001001890.3:c.13G>A | NP_001001890.1:p.Val5Ile | |
| NM_001122607.2:c.13G>A | NP_001116079.1:p.Val5Ile | |
| NM_001754.5:c.98-4G>A MANE Select | NP_001745.2:n.98-4G>A |