Linked Data
dbSNP Id:
rs372348796
ExAC:
3:50380652 A / C
gnomAD v2:
3-50380652-A-C
gnomAD v3:
3-50343221-A-C
gnomAD v4:
3-50343221-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50343221A>C , CM000665.2:g.50343221A>C | GRCh38 |
| NC_000003.11:g.50380652A>C , CM000665.1:g.50380652A>C | GRCh37 |
| NC_000003.10:g.50355656A>C | NCBI36 |
| NG_023270.1:g.2716T>G | |
| NG_042828.1:g.7526T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.511-15T>G MANE Select | ENSP00000231749.3:n.511-15T>G | |
| ENST00000231749.7:c.511-15T>G | ENSP00000231749.3:n.511-15T>G | |
| ENST00000360165.7:c.511-15T>G | ENSP00000353289.3:n.511-15T>G | |
| ENST00000442887.1:c.382-15T>G | ENSP00000393687.1:n.382-15T>G | |
| ENST00000443080.5:c.*263-15T>G | ENSP00000415661.1:n.*263-15T>G | |
| ENST00000478269.5:n.581T>G | ||
| NM_001308379.1:c.511-15T>G | NP_001295308.1:n.511-15T>G | |
| NM_015896.2:c.511-15T>G | NP_056980.2:n.511-15T>G | |
| NM_015896.3:c.511-15T>G | NP_056980.2:n.511-15T>G | |
| XM_005265216.2:c.274-15T>G | XP_005265273.1:n.274-15T>G | |
| XM_005265216.3:c.274-15T>G | XP_005265273.1:n.274-15T>G | |
| NM_015896.4:c.511-15T>G MANE Select | NP_056980.2:n.511-15T>G | |
| NM_001308379.2:c.511-15T>G | NP_001295308.1:n.511-15T>G |