Linked Data
dbSNP Id:
rs746528773
ExAC:
4:81207768 C / G
gnomAD v2:
4-81207768-C-G
gnomAD v3:
4-80286614-C-G
gnomAD v4:
4-80286614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286614C>G , CM000666.2:g.80286614C>G | GRCh38 |
| NC_000004.11:g.81207768C>G , CM000666.1:g.81207768C>G | GRCh37 |
| NC_000004.10:g.81426792C>G | NCBI36 |
| NG_029501.1:g.25027C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.749C>G MANE Select | ENSP00000311697.7:p.Ser250Cys | |
| ENST00000312465.11:c.749C>G | ENSP00000311697.7:p.Ser250Cys | |
| ENST00000456523.3:c.*273C>G | ENSP00000398353.3:n.*273C>G | |
| ENST00000503413.1:n.698C>G | ||
| ENST00000507780.1:c.342+11602C>G | ENSP00000423903.1:n.342+11602C>G | |
| NM_001291812.1:c.320C>G | NP_001278741.1:p.Ser107Cys | |
| NM_004464.3:c.749C>G | NP_004455.2:p.Ser250Cys | |
| NM_033143.2:c.*273C>G | NP_149134.1:n.*273C>G | |
| NM_001291812.2:c.320C>G | NP_001278741.1:p.Ser107Cys | |
| NM_004464.4:c.749C>G MANE Select | NP_004455.2:p.Ser250Cys |