Linked Data
ClinVar Variation Id:
14955
ClinVar RCV Id:
RCV000016095
dbSNP Id:
rs121912420
gnomAD v3:
22-20786951-C-T
gnomAD v4:
22-20786951-C-T
PubMed:
PMID:11204559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20786951C>T , CM000684.2:g.20786951C>T | GRCh38 |
| NC_000022.10:g.21141239C>T , CM000684.1:g.21141239C>T | GRCh37 |
| NC_000022.9:g.19471239C>T | NCBI36 |
| NG_012076.1:g.17857C>T | |
| NG_033052.1:g.76862G>A | |
| NG_012076.2:g.17857C>T | |
| NG_033052.2:g.76862G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215727.10:c.1385C>T (SERPIND1) MANE Select | ENSP00000215727.5:p.Pro462Leu | |
| ENST00000255882.11:c.2328+6242G>A (PI4KA) MANE Select | ENSP00000255882.6:n.2328+6242G>A | |
| ENST00000215727.9:c.1385C>T (SERPIND1) | ENSP00000215727.5:p.Pro462Leu | |
| ENST00000255882.10:c.2328+6242G>A (PI4KA) | ENSP00000255882.6:n.2328+6242G>A | |
| ENST00000406799.1:c.1385C>T (SERPIND1) | ENSP00000384050.1:p.Pro462Leu | |
| ENST00000466162.5:n.91+6242G>A (PI4KA) | ||
| ENST00000484220.1:n.64+6242G>A (PI4KA) | ||
| NM_000185.3:c.1385C>T (SERPIND1) | NP_000176.2:p.Pro462Leu | |
| NM_058004.3:c.2328+6242G>A (PI4KA) | NP_477352.3:n.2328+6242G>A | |
| XM_005261634.1:c.2412+6242G>A (PI4KA) | XP_005261691.1:n.2412+6242G>A | |
| XM_005261635.1:c.2412+6242G>A (PI4KA) | XP_005261692.1:n.2412+6242G>A | |
| XM_011530226.1:c.2412+6242G>A (PI4KA) | XP_011528528.1:n.2412+6242G>A | |
| XM_011530227.1:c.2412+6242G>A (PI4KA) | XP_011528529.1:n.2412+6242G>A | |
| XM_011530228.1:c.2412+6242G>A (PI4KA) | XP_011528530.1:n.2412+6242G>A | |
| XR_937868.1:n.2415+6242G>A (PI4KA) | ||
| NM_001362862.1:c.2328+6242G>A (PI4KA) | NP_001349791.1:n.2328+6242G>A | |
| NM_001362863.1:c.2262+6242G>A (PI4KA) | NP_001349792.1:n.2262+6242G>A | |
| XM_011530228.2:c.2412+6242G>A (PI4KA) | XP_011528530.1:n.2412+6242G>A | |
| XM_017028830.1:c.429+6242G>A (PI4KA) | XP_016884319.1:n.429+6242G>A | |
| XR_001755251.1:n.2415+6242G>A (PI4KA) | ||
| NM_000185.4:c.1385C>T (SERPIND1) MANE Select | NP_000176.2:p.Pro462Leu | |
| NM_058004.4:c.2328+6242G>A (PI4KA) MANE Select | NP_477352.3:n.2328+6242G>A | |
| NM_001362862.2:c.2328+6242G>A (PI4KA) | NP_001349791.1:n.2328+6242G>A | |
| NM_001362863.2:c.2262+6242G>A (PI4KA) | NP_001349792.1:n.2262+6242G>A |