Linked Data
dbSNP Id:
rs1197167392
gnomAD v2:
8-19796956-A-T
gnomAD v3:
8-19939445-A-T
gnomAD v4:
8-19939445-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939445A>T , CM000670.2:g.19939445A>T | GRCh38 |
| NC_000008.10:g.19796956A>T , CM000670.1:g.19796956A>T | GRCh37 |
| NC_000008.9:g.19841236A>T | NCBI36 |
| NG_008855.1:g.5375A>T | |
| NG_008855.2:g.42729A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.5A>T MANE Select | ENSP00000497642.1:p.Glu2Val | |
| ENST00000311322.8:c.5A>T | ENSP00000309757.6:p.Glu2Val | |
| ENST00000519773.1:c.5A>T | ENSP00000431028.1:p.Glu2Val | |
| ENST00000520959.5:c.-140-8735A>T | ENSP00000428496.1:n.-140-8735A>T | |
| ENST00000521994.1:n.190A>T | ||
| ENST00000522701.5:c.5A>T | ENSP00000428557.1:p.Glu2Val | |
| ENST00000523696.1:n.74A>T | ||
| ENST00000524029.5:c.5A>T | ENSP00000428237.1:p.Glu2Val | |
| NM_000237.2:c.5A>T | NP_000228.1:p.Glu2Val | |
| NM_000237.3:c.5A>T MANE Select | NP_000228.1:p.Glu2Val |