Linked Data
dbSNP Id:
rs200918179
ExAC:
4:81207645 A / G
gnomAD v2:
4-81207645-A-G
gnomAD v3:
4-80286491-A-G
gnomAD v4:
4-80286491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286491A>G , CM000666.2:g.80286491A>G | GRCh38 |
| NC_000004.11:g.81207645A>G , CM000666.1:g.81207645A>G | GRCh37 |
| NC_000004.10:g.81426669A>G | NCBI36 |
| NG_029501.1:g.24904A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.626A>G MANE Select | ENSP00000311697.7:p.Gln209Arg | |
| ENST00000312465.11:c.626A>G | ENSP00000311697.7:p.Gln209Arg | |
| ENST00000456523.3:c.*150A>G | ENSP00000398353.3:n.*150A>G | |
| ENST00000503413.1:n.575A>G | ||
| ENST00000507780.1:c.342+11479A>G | ENSP00000423903.1:n.342+11479A>G | |
| NM_001291812.1:c.197A>G | NP_001278741.1:p.Gln66Arg | |
| NM_004464.3:c.626A>G | NP_004455.2:p.Gln209Arg | |
| NM_033143.2:c.*150A>G | NP_149134.1:n.*150A>G | |
| NM_001291812.2:c.197A>G | NP_001278741.1:p.Gln66Arg | |
| NM_004464.4:c.626A>G MANE Select | NP_004455.2:p.Gln209Arg |