Linked Data
ClinVar Variation Id:
2296133
ClinVar RCV Id:
RCV004143196
dbSNP Id:
rs374079729
gnomAD v2:
4-1988111-G-A
gnomAD v4:
4-1986384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1986384G>A , CM000666.2:g.1986384G>A | GRCh38 |
| NC_000004.11:g.1988111G>A , CM000666.1:g.1988111G>A | GRCh37 |
| NC_000004.10:g.1957909G>A | NCBI36 |
| NG_009232.1:g.27849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382882.9:c.653C>T (NELFA) MANE Select | ENSP00000372335.4:p.Pro218Leu | |
| ENST00000431323.6:c.668C>T (NELFA) | ENSP00000395761.2:p.Pro223Leu | |
| ENST00000333877.8:c.*220C>T (NELFA) | ENSP00000330311.4:n.*220C>T | |
| ENST00000382882.7:c.686C>T (NELFA) | ENSP00000372335.3:p.Pro229Leu | |
| ENST00000411638.6:c.653C>T (NELFA) | ENSP00000399165.1:p.Pro218Leu | |
| ENST00000416258.5:c.665C>T (NELFA) | ENSP00000387647.1:p.Pro222Leu | |
| ENST00000421397.5:c.572C>T (NELFA) | ENSP00000410963.1:n.572C>T | |
| ENST00000431323.5:c.701C>T (NELFA) | ENSP00000395761.1:p.Pro234Leu | |
| ENST00000453740.5:c.355C>T (NELFA) | ||
| ENST00000455762.5:c.443C>T (NELFA) | ENSP00000410154.1:p.Pro148Leu | |
| ENST00000463820.5:n.972C>T (NELFA) | ||
| ENST00000467661.5:n.177C>T (NELFA) | ||
| ENST00000488452.5:n.456C>T (NELFA) | ||
| ENST00000542778.5:c.686C>T (NELFA) | ENSP00000445757.2:p.Pro229Leu | |
| NM_005663.4:c.686C>T (NELFA) | NP_005654.3:p.Pro229Leu | |
| NR_030641.1:n.94C>T (MIR943) | ||
| XM_006713916.2:c.761C>T (NELFA) | XP_006713979.1:p.Pro254Leu | |
| XM_011513561.1:c.770C>T (NELFA) | XP_011511863.1:p.Pro257Leu | |
| XM_017008589.2:c.770C>T (NELFA) | XP_016864078.1:p.Pro257Leu | |
| NM_005663.5:c.653C>T (NELFA) MANE Select | NP_005654.4:p.Pro218Leu |