Linked Data
ClinVar Variation Id:
1395444
ClinVar RCV Id:
RCV001891383
dbSNP Id:
rs1793077054
gnomAD v4:
7-92522157-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522157A>G , CM000669.2:g.92522157A>G | GRCh38 |
| NC_000007.13:g.92151471A>G , CM000669.1:g.92151471A>G | GRCh37 |
| NC_000007.12:g.91989407A>G | NCBI36 |
| NG_008341.1:g.11375T>C | |
| NG_008341.2:g.11375T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.218T>C MANE Select | ENSP00000248633.4:p.Val73Ala | |
| ENST00000248633.8:c.218T>C | ENSP00000248633.4:p.Val73Ala | |
| ENST00000428214.5:c.218T>C | ENSP00000394413.1:p.Val73Ala | |
| ENST00000438045.5:c.218T>C | ENSP00000410438.1:p.Val73Ala | |
| ENST00000484913.5:n.222T>C | ||
| NM_000466.2:c.218T>C | NP_000457.1:p.Val73Ala | |
| NM_001282677.1:c.218T>C | NP_001269606.1:p.Val73Ala | |
| NM_001282678.1:c.-442T>C | NP_001269607.1:n.-442T>C | |
| XR_242246.3:n.314T>C | ||
| XR_242246.5:n.265T>C | ||
| NM_000466.3:c.218T>C MANE Select | NP_000457.1:p.Val73Ala | |
| NM_001282677.2:c.218T>C | NP_001269606.1:p.Val73Ala | |
| NM_001282678.2:c.-442T>C | NP_001269607.1:n.-442T>C |