Linked Data
ClinVar Variation Id:
1642960
ClinVar RCV Id:
RCV002135763
dbSNP Id:
rs916738277
gnomAD v4:
7-92496794-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496794G>A , CM000669.2:g.92496794G>A | GRCh38 |
| NC_000007.13:g.92126108G>A , CM000669.1:g.92126108G>A | GRCh37 |
| NC_000007.12:g.91964044G>A | NCBI36 |
| NG_008341.1:g.36738C>T | |
| NG_008341.2:g.36738C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2719-17C>T MANE Select | ENSP00000248633.4:n.2719-17C>T | |
| ENST00000248633.8:c.2719-17C>T | ENSP00000248633.4:n.2719-17C>T | |
| ENST00000428214.5:c.2548-17C>T | ENSP00000394413.1:n.2548-17C>T | |
| ENST00000438045.5:c.1753-17C>T | ENSP00000410438.1:n.1753-17C>T | |
| ENST00000484913.5:n.2758-17C>T | ||
| ENST00000496420.5:n.2611-17C>T | ||
| NM_000466.2:c.2719-17C>T | NP_000457.1:n.2719-17C>T | |
| NM_001282677.1:c.2548-17C>T | NP_001269606.1:n.2548-17C>T | |
| NM_001282678.1:c.2095-17C>T | NP_001269607.1:n.2095-17C>T | |
| XM_005250433.3:c.970-17C>T | XP_005250490.1:n.970-17C>T | |
| XR_242246.3:n.2815-17C>T | ||
| XM_017012319.2:c.970-17C>T | XP_016867808.1:n.970-17C>T | |
| XR_001744808.2:n.1746-17C>T | ||
| XR_242246.5:n.2766-17C>T | ||
| NM_000466.3:c.2719-17C>T MANE Select | NP_000457.1:n.2719-17C>T | |
| NM_001282677.2:c.2548-17C>T | NP_001269606.1:n.2548-17C>T | |
| NM_001282678.2:c.2095-17C>T | NP_001269607.1:n.2095-17C>T |