Linked Data
dbSNP Id:
rs1192993371
gnomAD v2:
10-72201368-G-T
gnomAD v3:
10-70441612-G-T
gnomAD v4:
10-70441612-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70441612G>T , CM000672.2:g.70441612G>T | GRCh38 |
| NC_000010.10:g.72201368G>T , CM000672.1:g.72201368G>T | GRCh37 |
| NC_000010.9:g.71871374G>T | NCBI36 |
| NG_012448.1:g.5098C>A | |
| NG_012448.2:g.11337C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287139.8:c.56C>A MANE Select | ENSP00000287139.3:p.Ala19Glu | |
| ENST00000287139.7:c.56C>A | ENSP00000287139.3:p.Ala19Glu | |
| ENST00000414871.1:c.29-5629C>A | ENSP00000394468.1:n.29-5629C>A | |
| NM_018055.4:c.56C>A | NP_060525.3:p.Ala19Glu | |
| NM_001329906.1:c.-206-5629C>A | NP_001316835.1:n.-206-5629C>A | |
| XM_024448028.1:c.-207+419C>A | XP_024303796.1:n.-207+419C>A | |
| NM_018055.5:c.56C>A MANE Select | NP_060525.3:p.Ala19Glu | |
| NM_001329906.2:c.-206-5629C>A | NP_001316835.1:n.-206-5629C>A |