Linked Data
ClinVar Variation Id:
3220392
ClinVar RCV Id:
RCV004513302
dbSNP Id:
rs780356087
ExAC:
6:32810498 A / G
gnomAD v2:
6-32810498-A-G
gnomAD v4:
6-32842721-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842721A>G , CM000668.2:g.32842721A>G | GRCh38 |
| NC_000006.11:g.32810498A>G , CM000668.1:g.32810498A>G | GRCh37 |
| NC_000006.10:g.32918476A>G | NCBI36 |
| NG_009793.3:g.1050T>C | |
| NG_028165.1:g.7215T>C | |
| NG_009793.4:g.1050T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.537T>C | ||
| ENST00000697612.1:n.1215T>C | ||
| ENST00000374881.3:c.346T>C | ENSP00000364015.2:p.Cys116Arg | |
| ENST00000374882.8:c.358T>C MANE Select | ENSP00000364016.4:p.Cys120Arg | |
| ENST00000650411.1:n.1679T>C | ||
| ENST00000650793.1:n.537T>C | ||
| ENST00000374881.2:c.346T>C | ENSP00000364015.2:p.Cys116Arg | |
| ENST00000374882.7:c.358T>C | ENSP00000364016.3:p.Cys120Arg | |
| ENST00000395339.7:c.296-10T>C | ENSP00000378748.3:n.296-10T>C | |
| ENST00000484003.1:n.742T>C | ||
| NM_004159.4:c.346T>C | NP_004150.1:p.Cys116Arg | |
| NM_148919.3:c.358T>C | NP_683720.2:p.Cys120Arg | |
| NM_148919.4:c.358T>C MANE Select | NP_683720.2:p.Cys120Arg | |
| NM_004159.5:c.346T>C | NP_004150.1:p.Cys116Arg |