Linked Data
ClinVar Variation Id:
380853
dbSNP Id:
rs1800601
ExAC:
1:156785617 G / A
gnomAD v2:
1-156785617-G-A
gnomAD v3:
1-156815825-G-A
gnomAD v4:
1-156815825-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156815825G>A , CM000663.2:g.156815825G>A | GRCh38 |
| NC_000001.10:g.156785617G>A , CM000663.1:g.156785617G>A | GRCh37 |
| NC_000001.9:g.155052241G>A | NCBI36 |
| NG_007493.1:g.5076G>A , LRG_261:g.5076G>A | |
| NG_016849.1:g.6024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.-217G>A (NTRK1) | ENSP00000502725.1:n.-217G>A | |
| ENST00000368199.8:c.123+181C>T (SH2D2A) MANE Select | ENSP00000357182.3:n.123+181C>T | |
| ENST00000392302.7:c.-77G>A (NTRK1) | ENSP00000376120.3:n.-77G>A | |
| ENST00000497019.7:c.-77G>A (NTRK1) | ENSP00000436804.2:n.-77G>A | |
| ENST00000674537.1:c.-217G>A (NTRK1) | ENSP00000502725.1:n.-217G>A | |
| ENST00000368198.7:c.69+181C>T (SH2D2A) | ENSP00000357181.3:n.69+181C>T | |
| ENST00000368199.7:c.123+181C>T (SH2D2A) | ENSP00000357182.3:n.123+181C>T | |
| ENST00000392302.6:c.-5G>A (NTRK1) | ENSP00000376120.2:n.-5G>A | |
| ENST00000392306.2:c.123+181C>T (SH2D2A) | ENSP00000376123.2:n.123+181C>T | |
| ENST00000489021.6:n.186G>A (NTRK1) | ||
| ENST00000495306.1:n.175+181C>T (SH2D2A) | ||
| ENST00000497019.6:c.-5G>A (NTRK1) | ENSP00000436804.1:n.-5G>A | |
| NM_001007792.1:c.-5G>A , LRG_261t1:c.-5G>A (NTRK1) | NP_001007793.1:n.-5G>A | |
| NM_001161441.1:c.123+181C>T (SH2D2A) | NP_001154913.1:n.123+181C>T | |
| NM_001161442.1:c.69+181C>T (SH2D2A) | NP_001154914.1:n.69+181C>T | |
| NM_001161443.1:c.39+181C>T (SH2D2A) | NP_001154915.1:n.39+181C>T | |
| NM_001161444.1:c.123+181C>T (SH2D2A) | NP_001154916.1:n.123+181C>T | |
| NM_003975.3:c.123+181C>T (SH2D2A) | NP_003966.2:n.123+181C>T | |
| XM_006711615.1:c.141+181C>T (SH2D2A) | XP_006711678.1:n.141+181C>T | |
| XM_011510113.1:c.141+181C>T (SH2D2A) | XP_011508415.1:n.141+181C>T | |
| XM_011510114.1:c.69+181C>T (SH2D2A) | XP_011508416.1:n.69+181C>T | |
| XM_011510115.1:c.141+181C>T (SH2D2A) | XP_011508417.1:n.141+181C>T | |
| XM_006711615.2:c.141+181C>T (SH2D2A) | XP_006711678.1:n.141+181C>T | |
| XM_017002762.2:c.141+181C>T (SH2D2A) | XP_016858251.1:n.141+181C>T | |
| XM_017002763.1:c.141+181C>T (SH2D2A) | XP_016858252.1:n.141+181C>T | |
| XM_017002764.2:c.123+181C>T (SH2D2A) | XP_016858253.1:n.123+181C>T | |
| XM_017002765.1:c.69+181C>T (SH2D2A) | XP_016858254.1:n.69+181C>T | |
| XM_017002766.1:c.69+181C>T (SH2D2A) | XP_016858255.1:n.69+181C>T | |
| XM_017002767.1:c.141+181C>T (SH2D2A) | XP_016858256.1:n.141+181C>T | |
| NM_001161442.2:c.69+181C>T (SH2D2A) | NP_001154914.1:n.69+181C>T | |
| NM_001161443.2:c.39+181C>T (SH2D2A) | NP_001154915.1:n.39+181C>T | |
| NM_001161444.2:c.123+181C>T (SH2D2A) | NP_001154916.1:n.123+181C>T | |
| NM_003975.4:c.123+181C>T (SH2D2A) MANE Select | NP_003966.2:n.123+181C>T | |
| NM_001161441.2:c.123+181C>T (SH2D2A) | NP_001154913.1:n.123+181C>T |