Linked Data
dbSNP Id:
rs751541366
ExAC:
17:27857647 C / G
gnomAD v2:
17-27857647-C-G
gnomAD v4:
17-29530629-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29530629C>G , CM000679.2:g.29530629C>G | GRCh38 |
| NC_000017.10:g.27857647C>G , CM000679.1:g.27857647C>G | GRCh37 |
| NC_000017.9:g.24881773C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2361+10C>G MANE Select | ENSP00000261716.3:n.2361+10C>G | |
| ENST00000261716.7:c.2361+10C>G | ENSP00000261716.3:n.2361+10C>G | |
| ENST00000536202.1:c.1917+10C>G | ENSP00000438819.1:n.1917+10C>G | |
| ENST00000578653.1:n.455C>G | ||
| NM_020791.2:c.2361+10C>G | NP_065842.1:n.2361+10C>G | |
| NM_025142.1:c.1917+10C>G | NP_079418.1:n.1917+10C>G | |
| XM_011525060.1:c.2361+10C>G | XP_011523362.1:n.2361+10C>G | |
| XM_011525060.2:c.2361+10C>G | XP_011523362.1:n.2361+10C>G | |
| NM_020791.4:c.2361+10C>G MANE Select | NP_065842.1:n.2361+10C>G |