Linked Data
dbSNP Id:
rs10946737
gnomAD v2:
6-24967240-G-A
gnomAD v3:
6-24967012-G-A
gnomAD v4:
6-24967012-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24967012G>A , CM000668.2:g.24967012G>A | GRCh38 |
| NC_000006.11:g.24967240G>A , CM000668.1:g.24967240G>A | GRCh37 |
| NC_000006.10:g.25075219G>A | NCBI36 |
| NG_051606.1:g.80277C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510784.8:c.76+74839C>T | ENSP00000441305.1:n.76+74839C>T | |
| ENST00000510784.6:c.76+74839C>T | ENSP00000441305.1:n.76+74839C>T | |
| NM_001286446.1:c.76+74839C>T | NP_001273375.1:n.76+74839C>T | |
| XM_006715275.2:c.76+74839C>T | XP_006715338.1:n.76+74839C>T | |
| XM_006715281.2:c.76+74839C>T | XP_006715344.1:n.76+74839C>T | |
| XM_011515007.1:c.-442-30672C>T | XP_011513309.1:n.-442-30672C>T | |
| XM_011515009.1:c.-27+37356C>T | XP_011513311.1:n.-27+37356C>T | |
| XM_011515011.1:c.76+74839C>T | XP_011513313.1:n.76+74839C>T | |
| XM_011515012.1:c.76+74839C>T | XP_011513314.1:n.76+74839C>T | |
| NM_001286446.2:c.76+74839C>T | NP_001273375.1:n.76+74839C>T | |
| XM_006715281.3:c.76+74839C>T | XP_006715344.1:n.76+74839C>T | |
| XR_001743760.1:n.432+74839C>T | ||
| NM_001286446.3:c.76+74839C>T | NP_001273375.1:n.76+74839C>T |