Linked Data
dbSNP Id:
rs1055129
gnomAD v2:
17-73872948-A-G
gnomAD v3:
17-75876867-A-G
gnomAD v4:
17-75876867-A-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75876867A>G , CM000679.2:g.75876867A>G | GRCh38 |
| NC_000017.10:g.73872948A>G , CM000679.1:g.73872948A>G | GRCh37 |
| NC_000017.9:g.71384543A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254816.6:c.676-54T>C MANE Select | ENSP00000254816.1:n.676-54T>C | |
| ENST00000254816.5:c.676-54T>C | ENSP00000254816.1:n.676-54T>C | |
| ENST00000586495.1:c.-93T>C | ENSP00000465038.1:n.-93T>C | |
| ENST00000587339.2:c.347-54T>C | ||
| ENST00000587774.1:n.341-54T>C | ||
| NM_033452.2:c.676-54T>C | NP_258411.2:n.676-54T>C | |
| XM_005257787.3:c.-39-54T>C | XP_005257844.1:n.-39-54T>C | |
| XM_005257788.3:c.-39-54T>C | XP_005257845.1:n.-39-54T>C | |
| XM_005257787.4:c.-39-54T>C | XP_005257844.1:n.-39-54T>C | |
| XM_005257788.5:c.-39-54T>C | XP_005257845.1:n.-39-54T>C | |
| NM_033452.3:c.676-54T>C MANE Select | NP_258411.2:n.676-54T>C |