Linked Data
dbSNP Id:
rs1555177785
gnomAD v2:
11-111887510-A-G
gnomAD v3:
11-112016786-A-G
gnomAD v4:
11-112016786-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112016786A>G , CM000673.2:g.112016786A>G | GRCh38 |
| NC_000011.9:g.111887510A>G , CM000673.1:g.111887510A>G | GRCh37 |
| NC_000011.8:g.111392720A>G | NCBI36 |
| NG_033127.1:g.94644A>G | |
| NG_033127.2:g.94643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440460.7:c.1852A>G MANE Select | ENSP00000394352.3:p.Ile618Val | |
| ENST00000440460.6:c.1852A>G | ENSP00000394352.3:p.Ile618Val | |
| ENST00000526500.5:n.848A>G | ||
| ENST00000615255.1:c.1219A>G | ENSP00000480808.1:p.Ile407Val | |
| ENST00000618522.4:n.1205A>G | ||
| NM_001037954.3:c.1852A>G | NP_001033043.1:p.Ile618Val | |
| NM_033425.4:c.1219A>G | NP_219493.1:p.Ile407Val | |
| XM_005277726.3:c.1852A>G | XP_005277783.1:p.Ile618Val | |
| XM_005277727.3:c.1849A>G | XP_005277784.1:p.Ile617Val | |
| XM_005277728.3:c.1219A>G | XP_005277785.1:p.Ile407Val | |
| XM_011543045.1:c.970A>G | XP_011541347.1:p.Ile324Val | |
| XM_011543046.1:c.964A>G | XP_011541348.1:p.Ile322Val | |
| XM_017018466.2:c.1849A>G | XP_016873955.1:p.Ile617Val | |
| XM_017018467.1:c.1849A>G | XP_016873956.1:p.Ile617Val | |
| XM_017018468.1:c.970A>G | XP_016873957.1:p.Ile324Val | |
| XM_017018469.1:c.964A>G | XP_016873958.1:p.Ile322Val | |
| XM_024448742.1:c.1744A>G | XP_024304510.1:p.Ile582Val | |
| XM_024448743.1:c.1741A>G | XP_024304511.1:p.Ile581Val | |
| NM_001037954.4:c.1852A>G MANE Select | NP_001033043.1:p.Ile618Val | |
| NM_033425.5:c.1219A>G | NP_219493.1:p.Ile407Val |