Linked Data
ClinVar Variation Id:
40722
dbSNP Id:
rs730881034
ExAC:
2:39222341 G / A
gnomAD v2:
2-39222341-G-A
gnomAD v3:
2-38995200-G-A
gnomAD v4:
2-38995200-G-A
COSMIC:
COSM3581517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38995200G>A , CM000664.2:g.38995200G>A | GRCh38 |
| NC_000002.11:g.39222341G>A , CM000664.1:g.39222341G>A | GRCh37 |
| NC_000002.10:g.39075845G>A | NCBI36 |
| NG_007530.1:g.130264C>T , LRG_754:g.130264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2036C>T | ENSP00000509424.1:p.Pro679Leu | |
| ENST00000690876.1:c.*575C>T | ENSP00000508955.1:n.*575C>T | |
| ENST00000691229.1:c.3038C>T | ENSP00000510437.1:p.Pro1013Leu | |
| ENST00000692089.1:c.3158C>T | ENSP00000508626.1:p.Pro1053Leu | |
| ENST00000692227.1:c.965C>T | ENSP00000509138.1:p.Pro322Leu | |
| ENST00000692620.1:c.*856C>T | ENSP00000509311.1:n.*856C>T | |
| ENST00000402219.8:c.3269C>T MANE Select | ENSP00000384675.2:p.Pro1090Leu | |
| ENST00000395038.6:c.3269C>T | ENSP00000378479.2:p.Pro1090Leu | |
| ENST00000402219.6:c.3269C>T | ENSP00000384675.2:p.Pro1090Leu | |
| ENST00000426016.5:c.3269C>T | ENSP00000387784.1:p.Pro1090Leu | |
| NM_005633.3:c.3269C>T , LRG_754t1:c.3269C>T | NP_005624.2:p.Pro1090Leu | |
| XM_005264515.3:c.3269C>T | XP_005264572.1:p.Pro1090Leu | |
| XM_011533060.1:c.3362C>T | XP_011531362.1:p.Pro1121Leu | |
| XM_011533061.1:c.3362C>T | XP_011531363.1:p.Pro1121Leu | |
| XM_011533062.1:c.3248C>T | XP_011531364.1:p.Pro1083Leu | |
| XM_011533063.1:c.3245C>T | XP_011531365.1:p.Pro1082Leu | |
| XM_011533064.1:c.3098C>T | XP_011531366.1:p.Pro1033Leu | |
| XM_011533065.1:c.3362C>T | XP_011531367.1:p.Pro1121Leu | |
| XM_011533066.1:c.2204C>T | XP_011531368.1:p.Pro735Leu | |
| XM_005264515.4:c.3269C>T | XP_005264572.1:p.Pro1090Leu | |
| XM_011533062.2:c.3248C>T | XP_011531364.1:p.Pro1083Leu | |
| XM_011533064.2:c.3098C>T | XP_011531366.1:p.Pro1033Leu | |
| NM_001382394.1:c.3248C>T | NP_001369323.1:p.Pro1083Leu | |
| NM_001382395.1:c.3269C>T | NP_001369324.1:p.Pro1090Leu | |
| NM_005633.4:c.3269C>T MANE Select | NP_005624.2:p.Pro1090Leu |