Linked Data
dbSNP Id:
rs1047183981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112122A>T , CM000663.2:g.6112122A>T | GRCh38 |
| NC_000001.10:g.6172182A>T , CM000663.1:g.6172182A>T | GRCh37 |
| NC_000001.9:g.6094769A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5140+18T>A MANE Select | ENSP00000262450.3:n.5140+18T>A | |
| ENST00000262450.7:c.5140+18T>A | ENSP00000262450.3:n.5140+18T>A | |
| ENST00000377999.5:c.2043+18T>A | ENSP00000367238.2:n.2043+18T>A | |
| ENST00000462991.5:c.3393+18T>A | ||
| ENST00000496404.1:c.3858+18T>A | ENSP00000433676.1:n.3858+18T>A | |
| NM_015557.2:c.5140+18T>A | NP_056372.1:n.5140+18T>A | |
| NM_015557.3:c.5140+18T>A MANE Select | NP_056372.1:n.5140+18T>A |