Linked Data
ClinVar Variation Id:
1440247
ClinVar RCV Id:
RCV001965508
dbSNP Id:
rs146290947
ExAC:
16:30748692 G / A
gnomAD v2:
16-30748692-G-A
gnomAD v3:
16-30737371-G-A
gnomAD v4:
16-30737371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737371G>A , CM000678.2:g.30737371G>A | GRCh38 |
| NC_000016.9:g.30748692G>A , CM000678.1:g.30748692G>A | GRCh37 |
| NC_000016.8:g.30656193G>A | NCBI36 |
| NG_032135.1:g.43231G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411466.7:c.7331G>A | ENSP00000405186.3:p.Arg2444Gln | |
| ENST00000704023.1:c.1593+18G>A | ||
| ENST00000706321.1:c.7331G>A | ENSP00000516346.1:p.Arg2444Gln | |
| ENST00000262518.9:c.7331G>A MANE Select | ENSP00000262518.4:p.Arg2444Gln | |
| ENST00000262518.8:c.7331G>A | ENSP00000262518.4:p.Arg2444Gln | |
| ENST00000380361.7:c.6800G>A | ENSP00000369719.3:p.Arg2267Gln | |
| ENST00000395059.6:c.6554G>A | ENSP00000378499.3:p.Arg2185Gln | |
| NM_006662.2:c.7331G>A | NP_006653.2:p.Arg2444Gln | |
| NM_006662.3:c.7331G>A MANE Select | NP_006653.2:p.Arg2444Gln |