Linked Data
ClinVar Variation Id:
754586
ClinVar RCV Id:
RCV001408305
dbSNP Id:
rs375550740
ExAC:
7:92146863 A / G
gnomAD v2:
7-92146863-A-G
gnomAD v3:
7-92517549-A-G
gnomAD v4:
7-92517549-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517549A>G , CM000669.2:g.92517549A>G | GRCh38 |
| NC_000007.13:g.92146863A>G , CM000669.1:g.92146863A>G | GRCh37 |
| NC_000007.12:g.91984799A>G | NCBI36 |
| NG_008341.1:g.15983T>C | |
| NG_008341.2:g.15983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.966T>C MANE Select | ENSP00000248633.4:p.Phe322= | |
| ENST00000248633.8:c.966T>C | ENSP00000248633.4:p.Phe322= | |
| ENST00000428214.5:c.966T>C | ENSP00000394413.1:p.Phe322= | |
| ENST00000438045.5:c.274-3582T>C | ENSP00000410438.1:n.274-3582T>C | |
| ENST00000484913.5:n.1005T>C | ||
| NM_000466.2:c.966T>C | NP_000457.1:p.Phe322= | |
| NM_001282677.1:c.966T>C | NP_001269606.1:p.Phe322= | |
| NM_001282678.1:c.342T>C | NP_001269607.1:p.Phe114= | |
| XR_242246.3:n.1062T>C | ||
| XM_017012319.2:c.-701T>C | XP_016867808.1:n.-701T>C | |
| XR_001744808.2:n.76T>C | ||
| XR_242246.5:n.1013T>C | ||
| NM_000466.3:c.966T>C MANE Select | NP_000457.1:p.Phe322= | |
| NM_001282677.2:c.966T>C | NP_001269606.1:p.Phe322= | |
| NM_001282678.2:c.342T>C | NP_001269607.1:p.Phe114= |