Linked Data
ClinVar Variation Id:
2854866
ClinVar RCV Id:
RCV003759167
dbSNP Id:
rs1792851805
gnomAD v4:
7-92517547-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517547T>A , CM000669.2:g.92517547T>A | GRCh38 |
| NC_000007.13:g.92146861T>A , CM000669.1:g.92146861T>A | GRCh37 |
| NC_000007.12:g.91984797T>A | NCBI36 |
| NG_008341.1:g.15985A>T | |
| NG_008341.2:g.15985A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.968A>T MANE Select | ENSP00000248633.4:p.Asp323Val | |
| ENST00000248633.8:c.968A>T | ENSP00000248633.4:p.Asp323Val | |
| ENST00000428214.5:c.968A>T | ENSP00000394413.1:p.Asp323Val | |
| ENST00000438045.5:c.274-3580A>T | ENSP00000410438.1:n.274-3580A>T | |
| ENST00000484913.5:n.1007A>T | ||
| NM_000466.2:c.968A>T | NP_000457.1:p.Asp323Val | |
| NM_001282677.1:c.968A>T | NP_001269606.1:p.Asp323Val | |
| NM_001282678.1:c.344A>T | NP_001269607.1:p.Asp115Val | |
| XR_242246.3:n.1064A>T | ||
| XM_017012319.2:c.-699A>T | XP_016867808.1:n.-699A>T | |
| XR_001744808.2:n.78A>T | ||
| XR_242246.5:n.1015A>T | ||
| NM_000466.3:c.968A>T MANE Select | NP_000457.1:p.Asp323Val | |
| NM_001282677.2:c.968A>T | NP_001269606.1:p.Asp323Val | |
| NM_001282678.2:c.344A>T | NP_001269607.1:p.Asp115Val |