Linked Data
dbSNP Id:
rs1195723540
gnomAD v2:
1-165409274-T-C
gnomAD v3:
1-165440037-T-C
gnomAD v4:
1-165440037-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165440037T>C , CM000663.2:g.165440037T>C | GRCh38 |
| NC_000001.10:g.165409274T>C , CM000663.1:g.165409274T>C | GRCh37 |
| NC_000001.9:g.163675898T>C | NCBI36 |
| NG_029517.1:g.10319A>G | |
| NG_029517.2:g.10319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359842.10:c.49+4808A>G MANE Select | ENSP00000352900.5:n.49+4808A>G | |
| ENST00000359842.9:c.49+4808A>G | ENSP00000352900.5:n.49+4808A>G | |
| ENST00000465764.1:n.329-2836A>G | ||
| ENST00000619224.1:c.-379+4808A>G | ENSP00000482458.1:n.-379+4808A>G | |
| NM_001256570.1:c.-379+4808A>G | NP_001243499.1:n.-379+4808A>G | |
| NM_006917.4:c.49+4808A>G | NP_008848.1:n.49+4808A>G | |
| NR_033824.1:n.512-2836A>G | ||
| NM_006917.5:c.49+4808A>G MANE Select | NP_008848.1:n.49+4808A>G | |
| NR_033824.2:n.283-2836A>G | ||
| NM_001256570.2:c.-379+4808A>G | NP_001243499.1:n.-379+4808A>G |