Linked Data
ClinVar Variation Id:
794226
ClinVar RCV Id:
RCV000977465
dbSNP Id:
rs779678303
ExAC:
1:115829102 G / A
gnomAD v2:
1-115829102-G-A
gnomAD v4:
1-115286481-G-A
COSMIC:
COSM2177890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115286481G>A , CM000663.2:g.115286481G>A | GRCh38 |
| NC_000001.10:g.115829102G>A , CM000663.1:g.115829102G>A | GRCh37 |
| NC_000001.9:g.115630625G>A | NCBI36 |
| NG_007944.1:g.56756C>T , LRG_260:g.56756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369512.3:c.315C>T (NGF) MANE Select | ENSP00000358525.2:p.Phe105= | |
| ENST00000675637.2:c.315C>T (NGF) | ENSP00000502831.1:p.Phe105= | |
| ENST00000676038.2:c.315C>T (NGF) | ENSP00000502380.1:p.Phe105= | |
| ENST00000679806.1:c.315C>T (NGF) | ENSP00000506492.1:p.Phe105= | |
| ENST00000680116.1:c.315C>T (NGF) | ENSP00000505694.1:p.Phe105= | |
| ENST00000680540.1:c.315C>T (NGF) | ENSP00000506569.1:p.Phe105= | |
| ENST00000680752.1:c.315C>T (NGF) | ENSP00000505558.1:p.Phe105= | |
| ENST00000681124.1:c.-157C>T (NGF) | ENSP00000506364.1:n.-157C>T | |
| ENST00000369512.2:c.315C>T (NGF) | ENSP00000358525.2:p.Phe105= | |
| NM_002506.2:c.315C>T , LRG_260t1:c.315C>T (NGF) | NP_002497.2:p.Phe105= | |
| XM_006710663.2:c.315C>T (NGF) | XP_006710726.1:p.Phe105= | |
| XM_006710665.2:c.315C>T (NGF) | XP_006710728.1:p.Phe105= | |
| XM_011541518.1:c.480C>T (NGF) | XP_011539820.1:p.Phe160= | |
| NR_157569.1:n.207+3241G>A (NGF-AS1) | ||
| XM_006710663.3:c.315C>T (NGF) | XP_006710726.1:p.Phe105= | |
| XM_011541518.2:c.480C>T (NGF) | XP_011539820.1:p.Phe160= | |
| NM_002506.3:c.315C>T (NGF) MANE Select | NP_002497.2:p.Phe105= |