Linked Data
ClinVar Variation Id:
1465959
ClinVar RCV Id:
RCV001963847
dbSNP Id:
rs2148076537
gnomAD v4:
2-27232227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27232227C>T , CM000664.2:g.27232227C>T | GRCh38 |
| NC_000002.11:g.27455095C>T , CM000664.1:g.27455095C>T | GRCh37 |
| NC_000002.10:g.27308599C>T | NCBI36 |
| NG_046394.1:g.19838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264705.9:c.2645+3C>T MANE Select | ENSP00000264705.3:n.2645+3C>T | |
| ENST00000264705.8:c.2645+3C>T | ENSP00000264705.3:n.2645+3C>T | |
| ENST00000403525.5:c.2456+3C>T | ENSP00000384510.1:n.2456+3C>T | |
| ENST00000464159.1:n.393+3C>T | ||
| NM_001306079.1:c.2456+3C>T | NP_001293008.1:n.2456+3C>T | |
| NM_004341.3:c.2645+3C>T | NP_004332.2:n.2645+3C>T | |
| NM_004341.4:c.2645+3C>T | NP_004332.2:n.2645+3C>T | |
| XM_005264555.2:c.2645+3C>T | XP_005264612.1:n.2645+3C>T | |
| XM_005264556.2:c.2645+3C>T | XP_005264613.1:n.2645+3C>T | |
| XM_005264557.2:c.2645+3C>T | XP_005264614.1:n.2645+3C>T | |
| XM_006712101.1:c.2456+3C>T | XP_006712164.1:n.2456+3C>T | |
| XM_006712101.3:c.2456+3C>T | XP_006712164.1:n.2456+3C>T | |
| XM_024453131.1:c.371+3C>T | XP_024308899.1:n.371+3C>T | |
| NM_004341.5:c.2645+3C>T MANE Select | NP_004332.2:n.2645+3C>T | |
| NM_001306079.2:c.2456+3C>T | NP_001293008.1:n.2456+3C>T |