Linked Data
ClinVar Variation Id:
4752
ClinVar RCV Id:
RCV000005018
dbSNP Id:
rs121917865
gnomAD v3:
19-49908636-T-G
PubMed:
PMID:16786527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49908636T>G , CM000681.2:g.49908636T>G | GRCh38 |
| NC_000019.9:g.50411893T>G , CM000681.1:g.50411893T>G | GRCh37 |
| NC_000019.8:g.55103705T>G | NCBI36 |
| NG_021170.1:g.25870A>C | |
| NG_023448.1:g.26096A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000596437.6:c.1172A>C (NUP62) | ENSP00000468842.2:p.Gln391Pro | |
| ENST00000597029.6:c.1172A>C (NUP62) | ENSP00000473192.1:p.Gln391Pro | |
| ENST00000598301.2:c.1172A>C (NUP62) | ENSP00000515009.1:p.Gln391Pro | |
| ENST00000599560.6:c.1172A>C (NUP62) | ENSP00000515013.1:p.Gln391Pro | |
| ENST00000599788.2:c.1172A>C (NUP62) | ENSP00000468884.2:p.Gln391Pro | |
| ENST00000600583.6:c.1172A>C (NUP62) | ENSP00000515011.1:p.Gln391Pro | |
| ENST00000600935.2:c.1172A>C (NUP62) | ENSP00000468839.2:p.Gln391Pro | |
| ENST00000700473.1:c.1172A>C (NUP62) | ENSP00000515006.1:p.Gln391Pro | |
| ENST00000700474.1:c.1172A>C (NUP62) | ENSP00000515007.1:p.Gln391Pro | |
| ENST00000700475.1:c.1172A>C (NUP62) | ENSP00000515008.1:p.Gln391Pro | |
| ENST00000700476.1:c.1172A>C (NUP62) | ENSP00000515010.1:p.Gln391Pro | |
| ENST00000700477.1:c.1172A>C (NUP62) | ENSP00000515012.1:p.Gln391Pro | |
| ENST00000700478.1:c.1172A>C (NUP62) | ENSP00000515014.1:p.Gln391Pro | |
| ENST00000352066.8:c.1172A>C (NUP62) MANE Select | ENSP00000305503.3:p.Gln391Pro | |
| ENST00000341114.7:c.-227-4315A>C (IL4I1) | ENSP00000342557.2:n.-227-4315A>C | |
| ENST00000352066.7:c.1172A>C (NUP62) | ENSP00000305503.2:p.Gln391Pro | |
| ENST00000422090.2:c.1172A>C (NUP62) | ENSP00000407331.1:p.Gln391Pro | |
| ENST00000595948.5:c.-285-4315A>C (IL4I1) | ENSP00000472474.1:n.-285-4315A>C | |
| ENST00000596011.1:c.-328-4315A>C (IL4I1) | ENSP00000472786.1:n.-328-4315A>C | |
| ENST00000596022.5:c.-227-4315A>C (IL4I1) | ENSP00000471950.1:n.-227-4315A>C | |
| ENST00000596217.1:c.1172A>C (NUP62) | ENSP00000471191.1:p.Gln391Pro | |
| ENST00000597029.5:c.1172A>C (NUP62) | ENSP00000473192.1:p.Gln391Pro | |
| ENST00000597295.5:c.-145-4315A>C (IL4I1) | ENSP00000469841.1:n.-145-4315A>C | |
| ENST00000597723.5:c.944A>C (NUP62) | ENSP00000469283.1:p.Gln315Pro | |
| ENST00000601717.5:c.-227-4315A>C (IL4I1) | ENSP00000469467.1:n.-227-4315A>C | |
| NM_001193357.1:c.1172A>C (NUP62) | NP_001180286.1:p.Gln391Pro | |
| NM_001258017.1:c.-227-4315A>C (IL4I1) | NP_001244946.1:n.-227-4315A>C | |
| NM_001258018.1:c.-285-4315A>C (IL4I1) | NP_001244947.1:n.-285-4315A>C | |
| NM_012346.4:c.1172A>C (NUP62) | NP_036478.2:p.Gln391Pro | |
| NM_016553.4:c.1172A>C (NUP62) | NP_057637.2:p.Gln391Pro | |
| NM_153718.3:c.1172A>C (NUP62) | NP_714940.1:p.Gln391Pro | |
| NM_153719.3:c.1172A>C (NUP62) | NP_714941.1:p.Gln391Pro | |
| NM_172374.2:c.-227-4315A>C (IL4I1) | NP_758962.1:n.-227-4315A>C | |
| NR_047577.1:n.337-4315A>C (IL4I1) | ||
| NM_001193357.2:c.1172A>C (NUP62) | NP_001180286.1:p.Gln391Pro | |
| NM_001258017.2:c.-227-4315A>C (IL4I1) | NP_001244946.1:n.-227-4315A>C | |
| NM_001258018.2:c.-285-4315A>C (IL4I1) | NP_001244947.1:n.-285-4315A>C | |
| NM_012346.5:c.1172A>C (NUP62) | NP_036478.2:p.Gln391Pro | |
| NM_016553.5:c.1172A>C (NUP62) MANE Select | NP_057637.2:p.Gln391Pro | |
| NM_153718.4:c.1172A>C (NUP62) | NP_714940.1:p.Gln391Pro | |
| NM_153719.4:c.1172A>C (NUP62) | NP_714941.1:p.Gln391Pro | |
| NM_172374.3:c.-227-4315A>C (IL4I1) | NP_758962.1:n.-227-4315A>C | |
| NR_047577.2:n.302-4315A>C (IL4I1) |