Linked Data
ClinVar Variation Id:
16991
dbSNP Id:
rs104893965
ExAC:
6:121769120 G / A
gnomAD v2:
6-121769120-G-A
gnomAD v3:
6-121447974-G-A
gnomAD v4:
6-121447974-G-A
PubMed:
PMID:11470490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447974G>A , CM000668.2:g.121447974G>A | GRCh38 |
| NC_000006.11:g.121769120G>A , CM000668.1:g.121769120G>A | GRCh37 |
| NC_000006.10:g.121810819G>A | NCBI36 |
| NG_008308.1:g.17376G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282561.4:c.1127G>A MANE Select | ENSP00000282561.3:p.Arg376Gln | |
| ENST00000647564.1:c.1127G>A | ENSP00000497565.1:p.Arg376Gln | |
| ENST00000649003.1:c.1127G>A | ENSP00000497283.1:p.Arg376Gln | |
| ENST00000650427.1:c.1127G>A | ENSP00000497367.1:p.Arg376Gln | |
| ENST00000282561.3:c.1127G>A | ENSP00000282561.3:p.Arg376Gln | |
| NM_000165.4:c.1127G>A | NP_000156.1:p.Arg376Gln | |
| NM_000165.5:c.1127G>A MANE Select | NP_000156.1:p.Arg376Gln |