Linked Data
ClinVar Variation Id:
305656
ClinVar RCV Id:
RCV000407555
dbSNP Id:
rs886048561
gnomAD v2:
11-67223927-C-T
gnomAD v3:
11-67456456-C-T
gnomAD v4:
11-67456456-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67456456C>T , CM000673.2:g.67456456C>T | GRCh38 |
| NC_000011.9:g.67223927C>T , CM000673.1:g.67223927C>T | GRCh37 |
| NC_000011.8:g.66980503C>T | NCBI36 |
| NG_021211.1:g.6110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325656.7:c.541+14C>T MANE Select | ENSP00000324960.5:n.541+14C>T | |
| ENST00000325656.6:c.541+14C>T | ENSP00000324960.5:n.541+14C>T | |
| ENST00000438189.6:c.226+14C>T | ENSP00000401555.2:n.226+14C>T | |
| ENST00000545777.1:c.*197+39C>T | ENSP00000439145.1:n.*197+39C>T | |
| NM_001300895.1:c.226+14C>T | NP_001287824.1:n.226+14C>T | |
| NM_001300896.1:c.226+14C>T | NP_001287825.1:n.226+14C>T | |
| NM_145200.3:c.541+14C>T | NP_660201.1:n.541+14C>T | |
| XM_005274114.2:c.576+39C>T | XP_005274171.2:n.576+39C>T | |
| XM_011545181.1:c.601+14C>T | XP_011543483.1:n.601+14C>T | |
| XM_011545182.1:c.457+238C>T | XP_011543484.1:n.457+238C>T | |
| XM_011545183.1:c.226+14C>T | XP_011543485.1:n.226+14C>T | |
| XM_011545184.1:c.226+14C>T | XP_011543486.1:n.226+14C>T | |
| XM_005274114.3:c.576+39C>T | XP_005274171.2:n.576+39C>T | |
| XM_011545181.2:c.601+14C>T | XP_011543483.1:n.601+14C>T | |
| XM_011545182.2:c.457+238C>T | XP_011543484.1:n.457+238C>T | |
| XM_011545183.2:c.226+14C>T | XP_011543485.1:n.226+14C>T | |
| XM_017018025.1:c.226+14C>T | XP_016873514.1:n.226+14C>T | |
| XM_024448615.1:c.541+14C>T | XP_024304383.1:n.541+14C>T | |
| XM_024448616.1:c.226+14C>T | XP_024304384.1:n.226+14C>T | |
| NM_001300895.2:c.226+14C>T | NP_001287824.1:n.226+14C>T | |
| NM_001300896.2:c.226+14C>T | NP_001287825.1:n.226+14C>T | |
| NM_145200.4:c.541+14C>T | NP_660201.1:n.541+14C>T | |
| NM_001300895.3:c.226+14C>T | NP_001287824.1:n.226+14C>T | |
| NM_001300896.3:c.226+14C>T | NP_001287825.1:n.226+14C>T | |
| NM_001379183.1:c.226+14C>T | NP_001366112.1:n.226+14C>T | |
| NM_145200.5:c.541+14C>T MANE Select | NP_660201.1:n.541+14C>T | |
| NR_166529.1:n.436+667C>T |