Linked Data
ClinVar Variation Id:
259502
dbSNP Id:
rs73928330
ExAC:
19:36342697 C / G
gnomAD v2:
19-36342697-C-G
gnomAD v3:
19-35851795-C-G
gnomAD v4:
19-35851795-C-G
PubMed:
PMID:28117080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851795C>G , CM000681.2:g.35851795C>G | GRCh38 |
| NC_000019.9:g.36342697C>G , CM000681.1:g.36342697C>G | GRCh37 |
| NC_000019.8:g.41034537C>G | NCBI36 |
| NG_013356.2:g.22493G>C , LRG_693:g.22493G>C | |
| NG_051206.1:g.5161C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.43G>C (NPHS1) MANE Select | ENSP00000368190.4:p.Gly15Arg | |
| ENST00000353632.6:c.43G>C (NPHS1) | ENSP00000343634.5:p.Gly15Arg | |
| ENST00000378910.9:c.43G>C (NPHS1) | ENSP00000368190.4:p.Gly15Arg | |
| ENST00000591817.1:n.560-123G>C (NPHS1) | ||
| NM_004646.3:c.43G>C , LRG_693t1:c.43G>C (NPHS1) | NP_004637.1:p.Gly15Arg | |
| XM_011527362.1:c.-184+72C>G (KIRREL2) | XP_011525664.1:n.-184+72C>G | |
| XM_011527363.1:c.-175+72C>G (KIRREL2) | XP_011525665.1:n.-175+72C>G | |
| XM_011527364.1:c.-184+72C>G (KIRREL2) | XP_011525666.1:n.-184+72C>G | |
| XM_011527365.1:c.-184+72C>G (KIRREL2) | XP_011525667.1:n.-184+72C>G | |
| NM_004646.4:c.43G>C (NPHS1) MANE Select | NP_004637.1:p.Gly15Arg |