Linked Data
dbSNP Id:
rs1291996019
gnomAD v2:
1-227058172-T-C
gnomAD v3:
1-226870471-T-C
gnomAD v4:
1-226870471-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226870471T>C , CM000663.2:g.226870471T>C | GRCh38 |
| NC_000001.10:g.227058172T>C , CM000663.1:g.227058172T>C | GRCh37 |
| NC_000001.9:g.225124795T>C | NCBI36 |
| NG_007381.1:g.4900T>C | |
| NG_007381.2:g.5288T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.-384T>C | ENSP00000355741.2:n.-384T>C | |
| ENST00000524196.6:c.-384T>C | ENSP00000429036.2:n.-384T>C | |
| ENST00000676884.1:c.-384T>C | ENSP00000503200.1:n.-384T>C | |
| ENST00000676888.1:c.-384T>C | ENSP00000504483.1:n.-384T>C | |
| ENST00000524196.5:c.-384T>C | ENSP00000429036.1:n.-384T>C | |
| XR_949226.1:n.49A>G |