Linked Data
ClinVar Variation Id:
356306
ClinVar RCV Id:
RCV000355307
dbSNP Id:
rs886061302
gnomAD v4:
6-31959000-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31959000A>C , CM000668.2:g.31959000A>C | GRCh38 |
| NC_000006.11:g.31926777A>C , CM000668.1:g.31926777A>C | GRCh37 |
| NC_000006.10:g.32034756A>C | NCBI36 |
| NG_032652.1:g.5197A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375429.7:c.-117T>G (NELFE) | ENSP00000364578.3:n.-117T>G | |
| ENST00000492185.5:n.39T>G (NELFE) | ||
| NM_002904.5:c.-117T>G (NELFE) | NP_002895.3:n.-117T>G | |
| NM_006929.4:c.-193A>C (SKIC2) | NP_008860.4:n.-193A>C | |
| XM_011514913.3:c.-346T>G (NELFE) | XP_011513215.1:n.-346T>G | |
| XM_017011299.2:c.-346T>G (NELFE) | XP_016866788.1:n.-346T>G |