Linked Data
ClinVar Variation Id:
944819
ClinVar RCV Id:
RCV001215308
dbSNP Id:
rs763425122
ExAC:
2:39249741 T / C
gnomAD v2:
2-39249741-T-C
gnomAD v3:
2-39022600-T-C
gnomAD v4:
2-39022600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022600T>C , CM000664.2:g.39022600T>C | GRCh38 |
| NC_000002.11:g.39249741T>C , CM000664.1:g.39249741T>C | GRCh37 |
| NC_000002.10:g.39103245T>C | NCBI36 |
| NG_007530.1:g.102864A>G , LRG_754:g.102864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1708A>G | ||
| ENST00000685279.1:c.595A>G | ENSP00000509424.1:p.Ile199Val | |
| ENST00000688043.1:n.2049A>G | ||
| ENST00000689668.1:n.1835A>G | ||
| ENST00000690876.1:c.1717A>G | ENSP00000508955.1:p.Ile573Val | |
| ENST00000691229.1:c.1717A>G | ENSP00000510437.1:p.Ile573Val | |
| ENST00000692089.1:c.1717A>G | ENSP00000508626.1:p.Ile573Val | |
| ENST00000692620.1:c.595A>G | ENSP00000509311.1:p.Ile199Val | |
| ENST00000402219.8:c.1828A>G MANE Select | ENSP00000384675.2:p.Ile610Val | |
| ENST00000395038.6:c.1828A>G | ENSP00000378479.2:p.Ile610Val | |
| ENST00000402219.6:c.1828A>G | ENSP00000384675.2:p.Ile610Val | |
| ENST00000426016.5:c.1828A>G | ENSP00000387784.1:p.Ile610Val | |
| NM_005633.3:c.1828A>G , LRG_754t1:c.1828A>G | NP_005624.2:p.Ile610Val | |
| XM_005264515.3:c.1828A>G | XP_005264572.1:p.Ile610Val | |
| XM_011533060.1:c.1921A>G | XP_011531362.1:p.Ile641Val | |
| XM_011533061.1:c.1921A>G | XP_011531363.1:p.Ile641Val | |
| XM_011533062.1:c.1807A>G | XP_011531364.1:p.Ile603Val | |
| XM_011533063.1:c.1804A>G | XP_011531365.1:p.Ile602Val | |
| XM_011533064.1:c.1657A>G | XP_011531366.1:p.Ile553Val | |
| XM_011533065.1:c.1921A>G | XP_011531367.1:p.Ile641Val | |
| XM_011533066.1:c.763A>G | XP_011531368.1:p.Ile255Val | |
| XM_005264515.4:c.1828A>G | XP_005264572.1:p.Ile610Val | |
| XM_011533062.2:c.1807A>G | XP_011531364.1:p.Ile603Val | |
| XM_011533064.2:c.1657A>G | XP_011531366.1:p.Ile553Val | |
| NM_001382394.1:c.1807A>G | NP_001369323.1:p.Ile603Val | |
| NM_001382395.1:c.1828A>G | NP_001369324.1:p.Ile610Val | |
| NM_005633.4:c.1828A>G MANE Select | NP_005624.2:p.Ile610Val |