Linked Data
ClinVar Variation Id:
356303
ClinVar RCV Id:
RCV000361885
dbSNP Id:
rs546698443
gnomAD v2:
6-31926721-C-G
gnomAD v3:
6-31958944-C-G
gnomAD v4:
6-31958944-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31958944C>G , CM000668.2:g.31958944C>G | GRCh38 |
| NC_000006.11:g.31926721C>G , CM000668.1:g.31926721C>G | GRCh37 |
| NC_000006.10:g.32034700C>G | NCBI36 |
| NG_032652.1:g.5141C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375429.8:c.-61G>C (NELFE) MANE Select | ENSP00000364578.3:n.-61G>C | |
| ENST00000375429.7:c.-61G>C (NELFE) | ENSP00000364578.3:n.-61G>C | |
| ENST00000441998.5:c.-61G>C (NELFE) | ENSP00000397914.1:n.-61G>C | |
| ENST00000444811.6:c.-61G>C (NELFE) | ENSP00000388400.2:n.-61G>C | |
| ENST00000481121.5:n.19G>C (NELFE) | ||
| ENST00000491139.5:n.22G>C (NELFE) | ||
| ENST00000492185.5:n.95G>C (NELFE) | ||
| ENST00000492539.5:c.-61G>C (NELFE) | ENSP00000419183.1:n.-61G>C | |
| ENST00000494956.1:c.-61G>C (NELFE) | ENSP00000420205.1:n.-61G>C | |
| NM_002904.5:c.-61G>C (NELFE) | NP_002895.3:n.-61G>C | |
| NM_006929.4:c.-249C>G (SKIC2) | NP_008860.4:n.-249C>G | |
| XM_006715205.2:c.-61G>C (NELFE) | XP_006715268.1:n.-61G>C | |
| XM_006715205.3:c.-61G>C (NELFE) | XP_006715268.1:n.-61G>C | |
| XM_011514913.3:c.-290G>C (NELFE) | XP_011513215.1:n.-290G>C | |
| XM_017011299.2:c.-290G>C (NELFE) | XP_016866788.1:n.-290G>C | |
| NM_002904.6:c.-61G>C (NELFE) MANE Select | NP_002895.3:n.-61G>C |