Linked Data
dbSNP Id:
rs1702176
gnomAD v2:
1-154777157-G-A
gnomAD v3:
1-154804681-G-A
gnomAD v4:
1-154804681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154804681G>A , CM000663.2:g.154804681G>A | GRCh38 |
| NC_000001.10:g.154777157G>A , CM000663.1:g.154777157G>A | GRCh37 |
| NC_000001.9:g.153043781G>A | NCBI36 |
| NG_016807.2:g.70598C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271915.9:c.1029+17408C>T MANE Select | ENSP00000271915.3:n.1029+17408C>T | |
| ENST00000271915.8:c.1029+17408C>T | ENSP00000271915.3:n.1029+17408C>T | |
| ENST00000358505.2:c.90+17408C>T | ENSP00000351295.2:n.90+17408C>T | |
| ENST00000361147.8:c.114+17408C>T | ENSP00000354764.4:n.114+17408C>T | |
| ENST00000618040.4:c.1029+17408C>T | ENSP00000481848.1:n.1029+17408C>T | |
| NM_001204087.1:c.1029+17408C>T | NP_001191016.1:n.1029+17408C>T | |
| NM_002249.5:c.1029+17408C>T | NP_002240.3:n.1029+17408C>T | |
| NM_170782.2:c.114+17408C>T | NP_740752.1:n.114+17408C>T | |
| NM_001365837.1:c.90+17408C>T | NP_001352766.1:n.90+17408C>T | |
| NM_001365838.1:c.90+17408C>T | NP_001352767.1:n.90+17408C>T | |
| NM_002249.6:c.1029+17408C>T MANE Select | NP_002240.3:n.1029+17408C>T | |
| NM_170782.3:c.114+17408C>T | NP_740752.1:n.114+17408C>T | |
| NM_001204087.2:c.1029+17408C>T | NP_001191016.1:n.1029+17408C>T |