Linked Data
dbSNP Id:
rs756224750
ExAC:
17:27857407 A / G
gnomAD v2:
17-27857407-A-G
gnomAD v3:
17-29530389-A-G
gnomAD v4:
17-29530389-A-G
MyVariant Identifiers:
chr17:g.27857407A>G (hg19)
chr17:g.27857407_27857408delinsGT (hg19)
chr17:g.29530389A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29530389A>G , CM000679.2:g.29530389A>G | GRCh38 |
| NC_000017.10:g.27857407A>G , CM000679.1:g.27857407A>G | GRCh37 |
| NC_000017.9:g.24881533A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2149-18A>G MANE Select | ENSP00000261716.3:n.2149-18A>G | |
| ENST00000261716.7:c.2149-18A>G | ENSP00000261716.3:n.2149-18A>G | |
| ENST00000536202.1:c.1705-18A>G | ENSP00000438819.1:n.1705-18A>G | |
| ENST00000578653.1:n.233-18A>G | ||
| NM_020791.2:c.2149-18A>G | NP_065842.1:n.2149-18A>G | |
| NM_025142.1:c.1705-18A>G | NP_079418.1:n.1705-18A>G | |
| XM_011525060.1:c.2149-18A>G | XP_011523362.1:n.2149-18A>G | |
| XM_011525060.2:c.2149-18A>G | XP_011523362.1:n.2149-18A>G | |
| NM_020791.4:c.2149-18A>G MANE Select | NP_065842.1:n.2149-18A>G |