Linked Data
dbSNP Id:
rs545595311
gnomAD v2:
17-4539393-G-T
gnomAD v3:
17-4636098-G-T
gnomAD v4:
17-4636098-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4636098G>T , CM000679.2:g.4636098G>T | GRCh38 |
| NC_000017.10:g.4539393G>T , CM000679.1:g.4539393G>T | GRCh37 |
| NC_000017.9:g.4486142G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.952-130C>A MANE Select | ENSP00000293761.3:n.952-130C>A | |
| ENST00000570836.6:c.952-130C>A | ENSP00000458832.1:n.952-130C>A | |
| ENST00000293761.7:c.952-130C>A | ENSP00000293761.3:n.952-130C>A | |
| ENST00000570836.5:c.952-130C>A | ENSP00000458832.1:n.952-130C>A | |
| ENST00000574640.1:c.835-130C>A | ENSP00000460483.1:n.835-130C>A | |
| NM_001140.3:c.952-130C>A | NP_001131.3:n.952-130C>A | |
| NM_001140.4:c.952-130C>A | NP_001131.3:n.952-130C>A | |
| NM_001140.5:c.952-130C>A MANE Select | NP_001131.3:n.952-130C>A |