Linked Data
dbSNP Id:
rs937887048
gnomAD v2:
1-84566629-C-T
gnomAD v3:
1-84100946-C-T
gnomAD v4:
1-84100946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84100946C>T , CM000663.2:g.84100946C>T | GRCh38 |
| NC_000001.10:g.84566629C>T , CM000663.1:g.84566629C>T | GRCh37 |
| NC_000001.9:g.84339217C>T | NCBI36 |
| NG_029728.1:g.27885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370688.7:c.46+22575C>T | ENSP00000359722.3:n.46+22575C>T | |
| ENST00000370689.6:c.46+22575C>T | ENSP00000359723.2:n.46+22575C>T | |
| NM_002731.3:c.46+22575C>T | NP_002722.1:n.46+22575C>T | |
| NM_207578.2:c.46+22575C>T | NP_997461.1:n.46+22575C>T | |
| XM_011541764.1:c.46+22575C>T | XP_011540066.1:n.46+22575C>T | |
| XM_017001713.2:c.46+22575C>T | XP_016857202.1:n.46+22575C>T | |
| NM_001375576.1:c.46+22575C>T | NP_001362505.1:n.46+22575C>T | |
| NM_207578.3:c.46+22575C>T | NP_997461.1:n.46+22575C>T | |
| NM_002731.4:c.46+22575C>T | NP_002722.1:n.46+22575C>T |