Linked Data
ClinVar Variation Id:
56516
ClinVar RCV Id:
RCV000049929
dbSNP Id:
rs386833954
gnomAD v4:
19-35851779-C-A
PubMed:
PMID:20172850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851779C>A , CM000681.2:g.35851779C>A | GRCh38 |
| NC_000019.9:g.36342681C>A , CM000681.1:g.36342681C>A | GRCh37 |
| NC_000019.8:g.41034521C>A | NCBI36 |
| NG_013356.2:g.22509G>T , LRG_693:g.22509G>T | |
| NG_051206.1:g.5145C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.58+1G>T (NPHS1) MANE Select | ENSP00000368190.4:n.58+1G>T | |
| ENST00000353632.6:c.58+1G>T (NPHS1) | ENSP00000343634.5:n.58+1G>T | |
| ENST00000378910.9:c.58+1G>T (NPHS1) | ENSP00000368190.4:n.58+1G>T | |
| ENST00000591817.1:n.560-107G>T (NPHS1) | ||
| NM_004646.3:c.58+1G>T , LRG_693t1:c.58+1G>T (NPHS1) | NP_004637.1:n.58+1G>T | |
| XM_011527362.1:c.-184+56C>A (KIRREL2) | XP_011525664.1:n.-184+56C>A | |
| XM_011527363.1:c.-175+56C>A (KIRREL2) | XP_011525665.1:n.-175+56C>A | |
| XM_011527364.1:c.-184+56C>A (KIRREL2) | XP_011525666.1:n.-184+56C>A | |
| XM_011527365.1:c.-184+56C>A (KIRREL2) | XP_011525667.1:n.-184+56C>A | |
| NM_004646.4:c.58+1G>T (NPHS1) MANE Select | NP_004637.1:n.58+1G>T |