Linked Data
ClinVar Variation Id:
142478
dbSNP Id:
rs144070976
ExAC:
11:94178985 T / C
gnomAD v2:
11-94178985-T-C
gnomAD v3:
11-94445819-T-C
gnomAD v4:
11-94445819-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94445819T>C , CM000673.2:g.94445819T>C | GRCh38 |
| NC_000011.9:g.94178985T>C , CM000673.1:g.94178985T>C | GRCh37 |
| NC_000011.8:g.93818633T>C | NCBI36 |
| NG_007261.1:g.53056A>G , LRG_85:g.53056A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1858A>G MANE Select | ENSP00000325863.4:p.Ile620Val | |
| ENST00000323929.7:c.1858A>G | ENSP00000325863.3:p.Ile620Val | |
| ENST00000323977.7:c.1783+1400A>G | ENSP00000326094.3:n.1783+1400A>G | |
| ENST00000393241.8:c.1855A>G | ENSP00000376933.4:p.Ile619Val | |
| ENST00000407439.7:c.1867A>G | ENSP00000385614.3:p.Ile623Val | |
| ENST00000535120.1:n.154A>G | ||
| NM_005590.3:c.1783+1400A>G | NP_005581.2:n.1783+1400A>G | |
| NM_005591.3:c.1858A>G , LRG_85t1:c.1858A>G | NP_005582.1:p.Ile620Val | |
| XM_005274008.2:c.1390A>G | XP_005274065.1:p.Ile464Val | |
| XM_006718842.2:c.1855A>G | XP_006718905.1:p.Ile619Val | |
| XM_011542837.1:c.1858A>G | XP_011541139.1:p.Ile620Val | |
| XR_947828.1:n.2154A>G | ||
| NM_001330347.1:c.1855A>G | NP_001317276.1:p.Ile619Val | |
| XM_005274008.3:c.1390A>G | XP_005274065.1:p.Ile464Val | |
| XM_006718842.3:c.1855A>G | XP_006718905.1:p.Ile619Val | |
| XM_011542837.2:c.1858A>G | XP_011541139.1:p.Ile620Val | |
| XM_017017772.1:c.1858A>G | XP_016873261.1:p.Ile620Val | |
| XR_947828.2:n.2154A>G | ||
| NM_001330347.2:c.1855A>G | NP_001317276.1:p.Ile619Val | |
| NM_005590.4:c.1783+1400A>G | NP_005581.2:n.1783+1400A>G | |
| NM_005591.4:c.1858A>G MANE Select | NP_005582.1:p.Ile620Val |