Linked Data
ClinVar Variation Id:
100589
dbSNP Id:
rs137853911
ExAC:
14:21811213 A / G
gnomAD v2:
14-21811213-A-G
gnomAD v3:
14-21343054-A-G
gnomAD v4:
14-21343054-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21343054A>G , CM000676.2:g.21343054A>G | GRCh38 |
| NC_000014.8:g.21811213A>G , CM000676.1:g.21811213A>G | GRCh37 |
| NC_000014.7:g.20881053A>G | NCBI36 |
| NG_008933.1:g.60078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.3358A>G MANE Select | ENSP00000382895.2:p.Ile1120Val | |
| ENST00000382933.8:c.1336A>G | ENSP00000372391.4:p.Ile446Val | |
| ENST00000400017.6:c.3358A>G | ENSP00000382895.2:p.Ile1120Val | |
| ENST00000553927.1:n.2290A>G | ||
| ENST00000555322.5:c.1785A>G | ||
| ENST00000555489.5:c.1551A>G | ENSP00000451044.1:n.1551A>G | |
| ENST00000555587.5:c.1783A>G | ENSP00000451262.1:p.Ile595Val | |
| ENST00000556336.5:c.2329A>G | ENSP00000450445.1:p.Ile777Val | |
| ENST00000557606.1:c.291A>G | ||
| ENST00000557771.5:c.3244A>G | ENSP00000451219.1:p.Ile1082Val | |
| NM_020366.3:c.3358A>G | NP_065099.3:p.Ile1120Val | |
| XM_005267879.2:c.2287A>G | XP_005267936.1:p.Ile763Val | |
| XM_005267880.2:c.2254A>G | XP_005267937.1:p.Ile752Val | |
| XM_005267881.2:c.1735A>G | XP_005267938.1:p.Ile579Val | |
| XM_011536978.1:c.2284A>G | XP_011535280.1:p.Ile762Val | |
| XM_011536979.1:c.2071A>G | XP_011535281.1:p.Ile691Val | |
| XM_011536980.1:c.1942A>G | XP_011535282.1:p.Ile648Val | |
| XM_011536981.1:c.1792A>G | XP_011535283.1:p.Ile598Val | |
| XM_011536982.1:c.1447A>G | XP_011535284.1:p.Ile483Val | |
| XM_011536983.1:c.3325A>G | XP_011535285.1:p.Ile1109Val | |
| XM_005267881.3:c.1735A>G | XP_005267938.1:p.Ile579Val | |
| XM_017021473.1:c.1789A>G | XP_016876962.1:p.Ile597Val | |
| XM_024449663.1:c.2281A>G | XP_024305431.1:p.Ile761Val | |
| XM_024449664.1:c.1786A>G | XP_024305432.1:p.Ile596Val | |
| XM_024449665.1:c.1444A>G | XP_024305433.1:p.Ile482Val | |
| XM_024449666.1:c.1441A>G | XP_024305434.1:p.Ile481Val | |
| NM_001377523.1:c.1336A>G | NP_001364452.1:p.Ile446Val | |
| NM_001377948.1:c.2284A>G | NP_001364877.1:p.Ile762Val | |
| NM_001377949.1:c.1444A>G | NP_001364878.1:p.Ile482Val | |
| NM_001377950.1:c.1336A>G | NP_001364879.1:p.Ile446Val | |
| NM_001377951.1:c.841A>G | NP_001364880.1:p.Ile281Val | |
| NM_020366.4:c.3358A>G MANE Select | NP_065099.3:p.Ile1120Val |