Linked Data
ClinVar Variation Id:
5941
ClinVar RCV Id:
RCV000006304
dbSNP Id:
rs11739136
ExAC:
5:169810796 C / T
gnomAD v2:
5-169810796-C-T
gnomAD v3:
5-170383792-C-T
gnomAD v4:
5-170383792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170383792C>T , CM000667.2:g.170383792C>T | GRCh38 |
| NC_000005.9:g.169810796C>T , CM000667.1:g.169810796C>T | GRCh37 |
| NC_000005.8:g.169743374C>T | NCBI36 |
| NG_011452.2:g.10843G>A | |
| NG_011538.1:g.34916C>T | |
| NG_011538.2:g.34916C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274629.9:c.193G>A (KCNMB1) MANE Select | ENSP00000274629.3:p.Glu65Lys | |
| ENST00000274629.8:c.193G>A (KCNMB1) | ENSP00000274629.3:p.Glu65Lys | |
| ENST00000377360.8:c.88+29828C>T (KCNIP1) | ENSP00000366577.4:n.88+29828C>T | |
| ENST00000517344.1:c.88+29828C>T (KCNIP1) | ENSP00000431053.1:n.88+29828C>T | |
| ENST00000518527.1:n.478+29828C>T (KCNIP1) | ||
| ENST00000521859.1:c.193G>A (KCNMB1) | ENSP00000427940.1:p.Glu65Lys | |
| NM_001034838.2:c.88+29828C>T (KCNIP1) | NP_001030010.1:n.88+29828C>T | |
| NM_004137.3:c.193G>A (KCNMB1) | NP_004128.1:p.Glu65Lys | |
| XM_006714861.1:c.-1+29828C>T (KCNIP1) | XP_006714924.1:n.-1+29828C>T | |
| XM_011534539.1:c.88+29828C>T (KCNIP1) | XP_011532841.1:n.88+29828C>T | |
| XM_017009407.1:c.88+29828C>T (KCNIP1) | XP_016864896.1:n.88+29828C>T | |
| XM_017009408.1:c.88+29828C>T (KCNIP1) | XP_016864897.1:n.88+29828C>T | |
| NM_004137.4:c.193G>A (KCNMB1) MANE Select | NP_004128.1:p.Glu65Lys | |
| NM_001034838.3:c.88+29828C>T (KCNIP1) | NP_001030010.1:n.88+29828C>T |