Linked Data
dbSNP Id:
rs368881792
ExAC:
17:27822581 A / G
gnomAD v2:
17-27822581-A-G
gnomAD v4:
17-29495563-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495563A>G , CM000679.2:g.29495563A>G | GRCh38 |
| NC_000017.10:g.27822581A>G , CM000679.1:g.27822581A>G | GRCh37 |
| NC_000017.9:g.24846707A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261716.8:c.835A>G MANE Select | ENSP00000261716.3:p.Ile279Val | |
| ENST00000261716.7:c.835A>G | ENSP00000261716.3:p.Ile279Val | |
| ENST00000536202.1:c.835A>G | ENSP00000438819.1:p.Ile279Val | |
| ENST00000577583.1:n.683A>G | ||
| NM_020791.2:c.835A>G | NP_065842.1:p.Ile279Val | |
| NM_025142.1:c.835A>G | NP_079418.1:p.Ile279Val | |
| XM_011525060.1:c.835A>G | XP_011523362.1:p.Ile279Val | |
| XM_011525060.2:c.835A>G | XP_011523362.1:p.Ile279Val | |
| NM_020791.4:c.835A>G MANE Select | NP_065842.1:p.Ile279Val |