Linked Data
dbSNP Id:
rs1342360052
gnomAD v2:
6-20652498-C-T
gnomAD v3:
6-20652267-C-T
gnomAD v4:
6-20652267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20652267C>T , CM000668.2:g.20652267C>T | GRCh38 |
| NC_000006.11:g.20652498C>T , CM000668.1:g.20652498C>T | GRCh37 |
| NC_000006.10:g.20760477C>T | NCBI36 |
| NG_021195.1:g.122811C>T | |
| NG_021195.2:g.122811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274695.8:c.371+2890C>T MANE Select | ENSP00000274695.4:n.371+2890C>T | |
| ENST00000378610.1:c.371+2890C>T | ENSP00000367873.1:n.371+2890C>T | |
| NM_017774.3:c.371+2890C>T MANE Select | NP_060244.2:n.371+2890C>T | |
| XM_006715128.2:c.371+2890C>T | XP_006715191.1:n.371+2890C>T | |
| XM_011514718.1:c.371+2890C>T | XP_011513020.1:n.371+2890C>T | |
| XM_011514719.1:c.371+2890C>T | XP_011513021.1:n.371+2890C>T | |
| XR_926265.1:n.538+2890C>T | ||
| XR_926266.1:n.651+2890C>T | ||
| XR_926267.1:n.538+2890C>T | ||
| XM_011514719.2:c.371+2890C>T | XP_011513021.1:n.371+2890C>T | |
| XM_017010986.1:c.371+2890C>T | XP_016866475.1:n.371+2890C>T | |
| XM_017010987.1:c.-384+2890C>T | XP_016866476.1:n.-384+2890C>T | |
| XM_024446481.1:c.371+2890C>T | XP_024302249.1:n.371+2890C>T | |
| XR_001743495.2:n.543+2890C>T | ||
| XR_001743496.2:n.938+2890C>T | ||
| XR_001743500.1:n.538+2890C>T | ||
| XR_001743501.1:n.538+2890C>T | ||
| XR_926265.2:n.538+2890C>T | ||
| XR_926266.2:n.651+2890C>T | ||
| XR_926267.2:n.538+2890C>T |