Linked Data
ClinVar Variation Id:
1234781
ClinVar RCV Id:
RCV001621545
dbSNP Id:
rs6747264
ExAC:
2:27455281 C / T
gnomAD v2:
2-27455281-C-T
gnomAD v3:
2-27232413-C-T
gnomAD v4:
2-27232413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27232413C>T , CM000664.2:g.27232413C>T | GRCh38 |
| NC_000002.11:g.27455281C>T , CM000664.1:g.27455281C>T | GRCh37 |
| NC_000002.10:g.27308785C>T | NCBI36 |
| NG_046394.1:g.20024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264705.9:c.2646-35C>T MANE Select | ENSP00000264705.3:n.2646-35C>T | |
| ENST00000264705.8:c.2646-35C>T | ENSP00000264705.3:n.2646-35C>T | |
| ENST00000403525.5:c.2457-35C>T | ENSP00000384510.1:n.2457-35C>T | |
| ENST00000464159.1:n.394-35C>T | ||
| NM_001306079.1:c.2457-35C>T | NP_001293008.1:n.2457-35C>T | |
| NM_004341.3:c.2646-35C>T | NP_004332.2:n.2646-35C>T | |
| NM_004341.4:c.2646-35C>T | NP_004332.2:n.2646-35C>T | |
| XM_005264555.2:c.2646-35C>T | XP_005264612.1:n.2646-35C>T | |
| XM_005264556.2:c.2646-35C>T | XP_005264613.1:n.2646-35C>T | |
| XM_005264557.2:c.2646-35C>T | XP_005264614.1:n.2646-35C>T | |
| XM_006712101.1:c.2457-35C>T | XP_006712164.1:n.2457-35C>T | |
| XM_006712101.3:c.2457-35C>T | XP_006712164.1:n.2457-35C>T | |
| XM_024453131.1:c.372-35C>T | XP_024308899.1:n.372-35C>T | |
| NM_004341.5:c.2646-35C>T MANE Select | NP_004332.2:n.2646-35C>T | |
| NM_001306079.2:c.2457-35C>T | NP_001293008.1:n.2457-35C>T |