Linked Data
dbSNP Id:
rs886061310
gnomAD v2:
6-32810847-G-C
gnomAD v3:
6-32843070-G-C
gnomAD v4:
6-32843070-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843070G>C , CM000668.2:g.32843070G>C | GRCh38 |
| NC_000006.11:g.32810847G>C , CM000668.1:g.32810847G>C | GRCh37 |
| NC_000006.10:g.32918825G>C | NCBI36 |
| NG_009793.3:g.701C>G | |
| NG_028165.1:g.6866C>G | |
| NG_009793.4:g.701C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.188C>G | ||
| ENST00000697612.1:n.866C>G | ||
| ENST00000374881.3:c.155C>G | ENSP00000364015.2:p.Ser52Cys | |
| ENST00000374882.8:c.167C>G MANE Select | ENSP00000364016.4:p.Ser56Cys | |
| ENST00000650411.1:n.1488C>G | ||
| ENST00000650793.1:n.188C>G | ||
| ENST00000374881.2:c.155C>G | ENSP00000364015.2:p.Ser52Cys | |
| ENST00000374882.7:c.167C>G | ENSP00000364016.3:p.Ser56Cys | |
| ENST00000395339.7:c.167C>G | ENSP00000378748.3:p.Ser56Cys | |
| ENST00000484003.1:n.393C>G | ||
| NM_004159.4:c.155C>G | NP_004150.1:p.Ser52Cys | |
| NM_148919.3:c.167C>G | NP_683720.2:p.Ser56Cys | |
| NM_148919.4:c.167C>G MANE Select | NP_683720.2:p.Ser56Cys | |
| NM_004159.5:c.155C>G | NP_004150.1:p.Ser52Cys |