Linked Data
ClinVar Variation Id:
1475554
ClinVar RCV Id:
RCV001976328
dbSNP Id:
rs772463473
ExAC:
4:81121352 A / G
gnomAD v2:
4-81121352-A-G
gnomAD v3:
4-80200198-A-G
gnomAD v4:
4-80200198-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80200198A>G , CM000666.2:g.80200198A>G | GRCh38 |
| NC_000004.11:g.81121352A>G , CM000666.1:g.81121352A>G | GRCh37 |
| NC_000004.10:g.81340376A>G | NCBI36 |
| NG_046725.1:g.19929A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.118A>G MANE Select | ENSP00000406998.2:p.Ile40Val | |
| ENST00000339711.8:c.118A>G | ENSP00000339764.4:p.Ile40Val | |
| ENST00000415738.2:c.118A>G | ENSP00000406998.2:p.Ile40Val | |
| ENST00000504452.5:c.118A>G | ENSP00000423985.1:p.Ile40Val | |
| ENST00000515013.5:c.118A>G | ENSP00000425149.1:p.Ile40Val | |
| NM_001099403.1:c.118A>G | NP_001092873.1:p.Ile40Val | |
| NM_020226.3:c.118A>G | NP_064611.3:p.Ile40Val | |
| XM_005263144.2:c.118A>G | XP_005263201.1:p.Ile40Val | |
| XM_005263145.2:c.118A>G | XP_005263202.1:p.Ile40Val | |
| XM_005263146.3:c.118A>G | XP_005263203.1:p.Ile40Val | |
| XM_011532133.1:c.958A>G | XP_011530435.1:p.Ile320Val | |
| XM_011532134.1:c.958A>G | XP_011530436.1:p.Ile320Val | |
| XM_011532135.1:c.817A>G | XP_011530437.1:p.Ile273Val | |
| XM_011532136.1:c.670A>G | XP_011530438.1:p.Ile224Val | |
| XM_011532137.1:c.670A>G | XP_011530439.1:p.Ile224Val | |
| XM_011532138.1:c.670A>G | XP_011530440.1:p.Ile224Val | |
| XM_011532139.1:c.670A>G | XP_011530441.1:p.Ile224Val | |
| XM_011532140.1:c.670A>G | XP_011530442.1:p.Ile224Val | |
| XM_011532141.1:c.532A>G | XP_011530443.1:p.Ile178Val | |
| XM_011532142.1:c.511A>G | XP_011530444.1:p.Ile171Val | |
| XM_005263146.4:c.118A>G | XP_005263203.1:p.Ile40Val | |
| XM_011532133.2:c.958A>G | XP_011530435.1:p.Ile320Val | |
| XM_011532135.2:c.817A>G | XP_011530437.1:p.Ile273Val | |
| XM_011532140.2:c.670A>G | XP_011530442.1:p.Ile224Val | |
| XM_011532141.3:c.532A>G | XP_011530443.1:p.Ile178Val | |
| XM_017008468.1:c.670A>G | XP_016863957.1:p.Ile224Val | |
| XM_017008469.1:c.754A>G | XP_016863958.1:p.Ile252Val | |
| XM_017008470.1:c.670A>G | XP_016863959.1:p.Ile224Val | |
| NM_001099403.2:c.118A>G MANE Select | NP_001092873.1:p.Ile40Val | |
| NM_020226.4:c.118A>G | NP_064611.3:p.Ile40Val |