Linked Data
ClinVar Variation Id:
465423
ClinVar RCV Id:
RCV000554127
dbSNP Id:
rs368551668
ExAC:
6:32808752 C / T
gnomAD v2:
6-32808752-C-T
gnomAD v3:
6-32840975-C-T
gnomAD v4:
6-32840975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32840975C>T , CM000668.2:g.32840975C>T | GRCh38 |
| NC_000006.11:g.32808752C>T , CM000668.1:g.32808752C>T | GRCh37 |
| NC_000006.10:g.32916730C>T | NCBI36 |
| NG_009793.3:g.2796G>A | |
| NG_028165.1:g.8961G>A | |
| NG_009793.4:g.2796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.1800G>A | ||
| ENST00000697612.1:n.1672G>A | ||
| ENST00000374881.3:c.803G>A | ENSP00000364015.2:p.Arg268Gln | |
| ENST00000374882.8:c.815G>A MANE Select | ENSP00000364016.4:p.Arg272Gln | |
| ENST00000650411.1:n.2136G>A | ||
| ENST00000374881.2:c.803G>A | ENSP00000364015.2:p.Arg268Gln | |
| ENST00000374882.7:c.815G>A | ENSP00000364016.3:p.Arg272Gln | |
| ENST00000395339.7:c.743G>A | ENSP00000378748.3:p.Arg248Gln | |
| ENST00000490613.1:n.577G>A | ||
| NM_004159.4:c.803G>A | NP_004150.1:p.Arg268Gln | |
| NM_148919.3:c.815G>A | NP_683720.2:p.Arg272Gln | |
| NM_148919.4:c.815G>A MANE Select | NP_683720.2:p.Arg272Gln | |
| NM_004159.5:c.803G>A | NP_004150.1:p.Arg268Gln |