Linked Data
dbSNP Id:
rs749906108
ExAC:
1:55527209 A / G
gnomAD v2:
1-55527209-A-G
gnomAD v3:
1-55061536-A-G
gnomAD v4:
1-55061536-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061536A>G , CM000663.2:g.55061536A>G | GRCh38 |
| NC_000001.10:g.55527209A>G , CM000663.1:g.55527209A>G | GRCh37 |
| NC_000001.9:g.55299797A>G | NCBI36 |
| NG_009061.1:g.26990A>G , LRG_275:g.26990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*183A>G | ENSP00000501161.2:n.*183A>G | |
| ENST00000710286.1:c.2200A>G | ENSP00000518176.1:p.Ile734Val | |
| ENST00000673903.1:c.1468A>G | ENSP00000501257.1:p.Ile490Val | |
| ENST00000673913.1:c.693A>G | ENSP00000501161.1:n.693A>G | |
| ENST00000302118.5:c.1843A>G MANE Select | ENSP00000303208.5:p.Ile615Val | |
| ENST00000490692.1:n.2389A>G | ||
| NM_174936.3:c.1843A>G , LRG_275t1:c.1843A>G | NP_777596.2:p.Ile615Val | |
| NR_110451.1:n.1450A>G | ||
| XM_011541193.1:c.964A>G | XP_011539495.1:p.Ile322Val | |
| NM_174936.4:c.1843A>G MANE Select | NP_777596.2:p.Ile615Val | |
| NR_110451.2:n.1450A>G |