Linked Data
ClinVar Variation Id:
904516
ClinVar RCV Id:
RCV001152488
dbSNP Id:
rs1762428314
gnomAD v3:
6-31859750-A-T
gnomAD v4:
6-31859750-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859750A>T , CM000668.2:g.31859750A>T | GRCh38 |
| NC_000006.11:g.31827527A>T , CM000668.1:g.31827527A>T | GRCh37 |
| NC_000006.10:g.31935506A>T | NCBI36 |
| NG_008201.1:g.8183T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1217T>A MANE Select | ENSP00000364782.4:p.Val406Glu | |
| ENST00000677054.1:n.2556T>A | ||
| ENST00000677512.1:n.1494T>A | ||
| ENST00000678869.1:n.1805T>A | ||
| ENST00000375631.4:c.1217T>A | ENSP00000364782.4:p.Val406Glu | |
| ENST00000480384.1:n.1516T>A | ||
| ENST00000491768.5:c.*327T>A | ENSP00000433127.1:n.*327T>A | |
| ENST00000495807.1:n.2525T>A | ||
| NM_000434.3:c.1217T>A | NP_000425.1:p.Val406Glu | |
| NM_000434.4:c.1217T>A MANE Select | NP_000425.1:p.Val406Glu |