Linked Data
ClinVar Variation Id:
2704291
ClinVar RCV Id:
RCV003572881
dbSNP Id:
rs1572023723
gnomAD v3:
1-212883450-C-T
gnomAD v4:
1-212883450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883450C>T , CM000663.2:g.212883450C>T | GRCh38 |
| NC_000001.10:g.213056792C>T , CM000663.1:g.213056792C>T | GRCh37 |
| NC_000001.9:g.211123415C>T | NCBI36 |
| NG_028131.1:g.30196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1092+12C>T MANE Select | ENSP00000355938.4:n.1092+12C>T | |
| ENST00000366971.8:c.1092+12C>T | ENSP00000355938.4:n.1092+12C>T | |
| ENST00000419102.1:c.488+12C>T | ||
| ENST00000474693.1:n.317+12C>T | ||
| ENST00000483790.1:n.30+12C>T | ||
| NM_014053.3:c.1092+12C>T | NP_054772.1:n.1092+12C>T | |
| XM_011509446.1:c.1092+12C>T | XP_011507748.1:n.1092+12C>T | |
| XR_247024.1:n.1266+12C>T | ||
| XR_426771.1:n.1393+12C>T | ||
| XM_011509446.3:c.1092+12C>T | XP_011507748.1:n.1092+12C>T | |
| XR_247024.3:n.1266+12C>T | ||
| NM_014053.4:c.1092+12C>T MANE Select | NP_054772.1:n.1092+12C>T |