Linked Data
dbSNP Id:
rs788016
gnomAD v2:
2-198352293-G-A
gnomAD v3:
2-197487569-G-A
gnomAD v4:
2-197487569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197487569G>A , CM000664.2:g.197487569G>A | GRCh38 |
| NC_000002.11:g.198352293G>A , CM000664.1:g.198352293G>A | GRCh37 |
| NC_000002.10:g.198060538G>A | NCBI36 |
| NG_008915.1:g.17706C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388968.8:c.1569+289C>T MANE Select | ENSP00000373620.3:n.1569+289C>T | |
| ENST00000418022.2:c.1569+289C>T | ENSP00000412227.2:n.1569+289C>T | |
| ENST00000426480.2:c.1569+289C>T | ENSP00000414446.2:n.1569+289C>T | |
| ENST00000428204.6:c.1569+289C>T | ENSP00000396460.2:n.1569+289C>T | |
| ENST00000439605.2:c.1569+289C>T | ENSP00000402478.2:n.1569+289C>T | |
| ENST00000440114.2:c.*1375+289C>T | ENSP00000390404.1:n.*1375+289C>T | |
| ENST00000452200.6:c.1569+289C>T | ENSP00000412717.2:n.1569+289C>T | |
| ENST00000461097.2:n.4317+289C>T | ||
| ENST00000476746.6:n.2617+289C>T | ||
| ENST00000676933.1:c.1473+289C>T | ENSP00000503144.1:n.1473+289C>T | |
| ENST00000677403.1:c.*565+289C>T | ENSP00000504667.1:n.*565+289C>T | |
| ENST00000677454.1:c.1707+289C>T | ENSP00000503295.1:n.1707+289C>T | |
| ENST00000677792.1:c.*578+289C>T | ENSP00000504645.1:n.*578+289C>T | |
| ENST00000677913.1:c.1569+289C>T | ENSP00000503139.1:n.1569+289C>T | |
| ENST00000678170.1:c.1296+289C>T | ENSP00000503910.1:n.1296+289C>T | |
| ENST00000678545.1:c.*879+289C>T | ENSP00000502920.1:n.*879+289C>T | |
| ENST00000678621.1:c.1570-190C>T | ENSP00000504328.1:n.1570-190C>T | |
| ENST00000678761.1:c.1569+289C>T | ENSP00000503894.1:n.1569+289C>T | |
| ENST00000678969.1:n.3159+289C>T | ||
| ENST00000679291.1:c.*578+289C>T | ENSP00000504417.1:n.*578+289C>T | |
| ENST00000345042.6:c.1569+289C>T | ENSP00000340019.2:n.1569+289C>T | |
| ENST00000388968.7:c.1569+289C>T | ENSP00000373620.3:n.1569+289C>T | |
| NM_002156.4:c.1569+289C>T | NP_002147.2:n.1569+289C>T | |
| NM_199440.1:c.1569+289C>T | NP_955472.1:n.1569+289C>T | |
| XM_005246518.2:c.1569+289C>T | XP_005246575.1:n.1569+289C>T | |
| NM_002156.5:c.1569+289C>T MANE Select | NP_002147.2:n.1569+289C>T | |
| NM_199440.2:c.1569+289C>T | NP_955472.1:n.1569+289C>T |