Linked Data
ClinVar Variation Id:
1126133
ClinVar RCV Id:
RCV001458062
dbSNP Id:
rs2032348186
gnomAD v4:
7-107919185-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107919185C>T , CM000669.2:g.107919185C>T | GRCh38 |
| NC_000007.13:g.107559630C>T , CM000669.1:g.107559630C>T | GRCh37 |
| NC_000007.12:g.107346866C>T | NCBI36 |
| NG_008045.1:g.33045C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000205402.10:c.1465-9C>T MANE Select | ENSP00000205402.3:n.1465-9C>T | |
| ENST00000205402.9:c.1465-9C>T | ENSP00000205402.3:n.1465-9C>T | |
| ENST00000415325.5:c.*1139-9C>T | ENSP00000402593.1:n.*1139-9C>T | |
| ENST00000417551.5:c.1465-9C>T | ENSP00000390667.1:n.1465-9C>T | |
| ENST00000437604.6:c.1321-9C>T | ENSP00000387542.2:n.1321-9C>T | |
| ENST00000440410.5:c.1396-9C>T | ENSP00000417016.1:n.1396-9C>T | |
| NM_000108.4:c.1465-9C>T | NP_000099.2:n.1465-9C>T | |
| NM_001289750.1:c.1168-9C>T | NP_001276679.1:n.1168-9C>T | |
| NM_001289751.1:c.1396-9C>T | NP_001276680.1:n.1396-9C>T | |
| NM_001289752.1:c.1321-9C>T | NP_001276681.1:n.1321-9C>T | |
| NM_000108.5:c.1465-9C>T MANE Select | NP_000099.2:n.1465-9C>T |