Linked Data
ClinVar Variation Id:
2725646
ClinVar RCV Id:
RCV003554656
dbSNP Id:
rs1425784640
gnomAD v2:
3-133494267-C-T
gnomAD v4:
3-133775423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133775423C>T , CM000665.2:g.133775423C>T | GRCh38 |
| NC_000003.11:g.133494267C>T , CM000665.1:g.133494267C>T | GRCh37 |
| NC_000003.10:g.134976957C>T | NCBI36 |
| NG_013080.1:g.34291C>T | |
| NG_013080.2:g.118426C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.1688-10C>T MANE Select | ENSP00000385834.3:n.1688-10C>T | |
| ENST00000402696.7:c.1688-10C>T | ENSP00000385834.3:n.1688-10C>T | |
| ENST00000461695.1:c.419-10C>T | ||
| ENST00000467842.1:n.2672C>T | ||
| NM_001063.3:c.1688-10C>T | NP_001054.1:n.1688-10C>T | |
| XM_011513100.1:c.1688-10C>T | XP_011511402.1:n.1688-10C>T | |
| NM_001354703.1:c.1556-10C>T | NP_001341632.1:n.1556-10C>T | |
| NM_001354704.1:c.1307-10C>T | NP_001341633.1:n.1307-10C>T | |
| NM_001063.4:c.1688-10C>T MANE Select | NP_001054.2:n.1688-10C>T | |
| NM_001354703.2:c.1556-10C>T | NP_001341632.2:n.1556-10C>T | |
| NM_001354704.2:c.1307-10C>T | NP_001341633.2:n.1307-10C>T |