Linked Data
dbSNP Id:
rs764559882
ExAC:
17:45360673 G / A
gnomAD v2:
17-45360673-G-A
gnomAD v3:
17-47283307-G-A
gnomAD v4:
17-47283307-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283307G>A , CM000679.2:g.47283307G>A | GRCh38 |
| NC_000017.10:g.45360673G>A , CM000679.1:g.45360673G>A | GRCh37 |
| NC_000017.9:g.42715672G>A | NCBI36 |
| NG_008332.2:g.34466G>A , LRG_481:g.34466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.166-47G>A | ENSP00000513002.1:n.166-47G>A | |
| ENST00000559488.7:c.166-47G>A MANE Select | ENSP00000452786.2:n.166-47G>A | |
| ENST00000559488.5:c.166-47G>A | ENSP00000452786.1:n.166-47G>A | |
| ENST00000560629.1:c.131-47G>A | ||
| ENST00000571680.1:c.166-47G>A | ENSP00000461626.1:n.166-47G>A | |
| NM_000212.2:c.166-47G>A , LRG_481t1:c.166-47G>A | NP_000203.2:n.166-47G>A | |
| NM_000212.3:c.166-47G>A MANE Select | NP_000203.2:n.166-47G>A |