Linked Data
ClinVar Variation Id:
858424
dbSNP Id:
rs752298116
ExAC:
21:36259345 G / A
gnomAD v2:
21-36259345-G-A
gnomAD v3:
21-34887048-G-A
gnomAD v4:
21-34887048-G-A
ERepo:
CA10014583/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34887048G>A , CM000683.2:g.34887048G>A | GRCh38 |
| NC_000021.8:g.36259345G>A , CM000683.1:g.36259345G>A | GRCh37 |
| NC_000021.7:g.35181215G>A | NCBI36 |
| NG_011402.2:g.1102664C>T , LRG_482:g.1102664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.146C>T MANE Select | ENSP00000501943.1:p.Pro49Leu | |
| ENST00000300305.7:c.146C>T | ENSP00000300305.3:p.Pro49Leu | |
| ENST00000344691.8:c.65C>T | ENSP00000340690.4:p.Pro22Leu | |
| ENST00000358356.9:c.65C>T | ENSP00000351123.5:p.Pro22Leu | |
| ENST00000399237.6:c.110C>T | ENSP00000382182.2:p.Pro37Leu | |
| ENST00000399240.5:c.65C>T | ENSP00000382184.1:p.Pro22Leu | |
| ENST00000437180.5:c.146C>T | ENSP00000409227.1:p.Pro49Leu | |
| ENST00000455571.5:c.107C>T | ENSP00000388189.1:p.Pro36Leu | |
| ENST00000475045.6:c.146C>T | ENSP00000477072.1:p.Pro49Leu | |
| ENST00000482318.5:c.59-6335C>T | ENSP00000477067.1:n.59-6335C>T | |
| NM_001001890.2:c.65C>T | NP_001001890.1:p.Pro22Leu | |
| NM_001122607.1:c.65C>T | NP_001116079.1:p.Pro22Leu | |
| NM_001754.4:c.146C>T , LRG_482t1:c.146C>T | NP_001745.2:p.Pro49Leu | |
| XM_005261068.3:c.110C>T | XP_005261125.1:p.Pro37Leu | |
| XM_005261069.3:c.146C>T | XP_005261126.1:p.Pro49Leu | |
| XM_011529766.1:c.146C>T | XP_011528068.1:p.Pro49Leu | |
| XM_011529767.1:c.107C>T | XP_011528069.1:p.Pro36Leu | |
| XM_011529768.1:c.107C>T | XP_011528070.1:p.Pro36Leu | |
| XM_011529770.1:c.146C>T | XP_011528072.1:p.Pro49Leu | |
| XR_937576.1:n.325C>T | ||
| XM_005261069.4:c.146C>T | XP_005261126.1:p.Pro49Leu | |
| XM_011529766.2:c.146C>T | XP_011528068.1:p.Pro49Leu | |
| XM_011529767.2:c.107C>T | XP_011528069.1:p.Pro36Leu | |
| XM_011529768.2:c.107C>T | XP_011528070.1:p.Pro36Leu | |
| XM_011529770.2:c.146C>T | XP_011528072.1:p.Pro49Leu | |
| XM_017028487.1:c.-8C>T | XP_016883976.1:n.-8C>T | |
| XR_937576.2:n.372C>T | ||
| NM_001001890.3:c.65C>T | NP_001001890.1:p.Pro22Leu | |
| NM_001122607.2:c.65C>T | NP_001116079.1:p.Pro22Leu | |
| NM_001754.5:c.146C>T MANE Select | NP_001745.2:p.Pro49Leu |