Linked Data
dbSNP Id:
rs200891724
ExAC:
4:81207617 C / A
gnomAD v2:
4-81207617-C-A
gnomAD v3:
4-80286463-C-A
gnomAD v4:
4-80286463-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286463C>A , CM000666.2:g.80286463C>A | GRCh38 |
| NC_000004.11:g.81207617C>A , CM000666.1:g.81207617C>A | GRCh37 |
| NC_000004.10:g.81426641C>A | NCBI36 |
| NG_029501.1:g.24876C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.598C>A MANE Select | ENSP00000311697.7:p.Arg200= | |
| ENST00000312465.11:c.598C>A | ENSP00000311697.7:p.Arg200= | |
| ENST00000456523.3:c.*122C>A | ENSP00000398353.3:n.*122C>A | |
| ENST00000503413.1:n.547C>A | ||
| ENST00000507780.1:c.342+11451C>A | ENSP00000423903.1:n.342+11451C>A | |
| NM_001291812.1:c.169C>A | NP_001278741.1:p.Arg57= | |
| NM_004464.3:c.598C>A | NP_004455.2:p.Arg200= | |
| NM_033143.2:c.*122C>A | NP_149134.1:n.*122C>A | |
| NM_001291812.2:c.169C>A | NP_001278741.1:p.Arg57= | |
| NM_004464.4:c.598C>A MANE Select | NP_004455.2:p.Arg200= |