Linked Data
dbSNP Id:
rs563059823
gnomAD v2:
3-38182458-T-C
gnomAD v3:
3-38140967-T-C
gnomAD v4:
3-38140967-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38140967T>C , CM000665.2:g.38140967T>C | GRCh38 |
| NC_000003.11:g.38182458T>C , CM000665.1:g.38182458T>C | GRCh37 |
| NC_000003.10:g.38157462T>C | NCBI36 |
| NG_016964.1:g.7490T>C , LRG_157:g.7490T>C | |
| NG_023225.1:g.1276A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463956.2:n.523+119T>C | ||
| ENST00000484513.2:n.2214+119T>C | ||
| ENST00000699084.1:n.1825+119T>C | ||
| ENST00000699085.1:n.1601+119T>C | ||
| ENST00000699086.1:c.517+119T>C | ||
| ENST00000396334.8:c.736+119T>C | ENSP00000379625.4:n.736+119T>C | |
| ENST00000416282.3:n.839+119T>C | ||
| ENST00000417037.8:c.601+119T>C | ENSP00000401399.4:n.601+119T>C | |
| ENST00000421516.3:c.760+119T>C | ENSP00000391753.3:n.760+119T>C | |
| ENST00000650112.2:c.420+119T>C | ENSP00000497991.2:n.420+119T>C | |
| ENST00000650905.2:c.736+119T>C MANE Select | ENSP00000498360.2:n.736+119T>C | |
| ENST00000651800.2:c.555+119T>C | ENSP00000499012.2:n.555+119T>C | |
| ENST00000652213.1:c.717+119T>C | ENSP00000498576.1:n.717+119T>C | |
| ENST00000652590.1:n.964+119T>C | ||
| ENST00000396334.7:c.775+119T>C | ENSP00000379625.3:n.775+119T>C | |
| ENST00000416282.2:n.839+119T>C | ||
| ENST00000417037.6:c.799+119T>C | ENSP00000401399.2:n.799+119T>C | |
| ENST00000421516.1:c.796+119T>C | ENSP00000391753.1:n.796+119T>C | |
| ENST00000424893.5:c.640+119T>C | ENSP00000389979.1:n.640+119T>C | |
| ENST00000443433.6:c.594+119T>C | ENSP00000390565.2:n.594+119T>C | |
| ENST00000463956.1:n.449+119T>C | ||
| ENST00000481122.5:n.529+119T>C | ||
| ENST00000484513.1:n.1426+119T>C | ||
| ENST00000495303.5:c.459+119T>C | ENSP00000417848.1:n.459+119T>C | |
| NM_001172566.1:c.459+119T>C | NP_001166037.1:n.459+119T>C | |
| NM_001172567.1:c.799+119T>C , LRG_157t1:c.799+119T>C | NP_001166038.1:n.799+119T>C | |
| NM_001172568.1:c.640+119T>C | NP_001166039.1:n.640+119T>C | |
| NM_001172569.1:c.594+119T>C | NP_001166040.1:n.594+119T>C | |
| NM_002468.4:c.775+119T>C | NP_002459.2:n.775+119T>C | |
| XM_005265172.1:c.756+119T>C | XP_005265229.1:n.756+119T>C | |
| XM_006713170.1:c.621+119T>C | XP_006713233.1:n.621+119T>C | |
| NM_001172566.2:c.420+119T>C | NP_001166037.2:n.420+119T>C | |
| NM_001172567.2:c.760+119T>C | NP_001166038.2:n.760+119T>C | |
| NM_001172568.2:c.601+119T>C | NP_001166039.2:n.601+119T>C | |
| NM_001172569.2:c.555+119T>C | NP_001166040.2:n.555+119T>C | |
| NM_001365876.1:c.717+119T>C | NP_001352805.1:n.717+119T>C | |
| NM_001365877.1:c.582+119T>C | NP_001352806.1:n.582+119T>C | |
| NM_002468.5:c.736+119T>C MANE Select | NP_002459.3:n.736+119T>C | |
| NM_001172569.3:c.555+119T>C | NP_001166040.2:n.555+119T>C | |
| NM_001374787.1:c.693+119T>C | NP_001361716.1:n.693+119T>C | |
| NM_001374788.1:c.268+119T>C | NP_001361717.1:n.268+119T>C | |
| NR_164663.1:n.419+119T>C |