Linked Data
dbSNP Id:
rs1489152100
gnomAD v2:
4-81207633-G-A
gnomAD v4:
4-80286479-G-A
COSMIC:
COSM1058060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286479G>A , CM000666.2:g.80286479G>A | GRCh38 |
| NC_000004.11:g.81207633G>A , CM000666.1:g.81207633G>A | GRCh37 |
| NC_000004.10:g.81426657G>A | NCBI36 |
| NG_029501.1:g.24892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.614G>A MANE Select | ENSP00000311697.7:p.Arg205Gln | |
| ENST00000312465.11:c.614G>A | ENSP00000311697.7:p.Arg205Gln | |
| ENST00000456523.3:c.*138G>A | ENSP00000398353.3:n.*138G>A | |
| ENST00000503413.1:n.563G>A | ||
| ENST00000507780.1:c.342+11467G>A | ENSP00000423903.1:n.342+11467G>A | |
| NM_001291812.1:c.185G>A | NP_001278741.1:p.Arg62Gln | |
| NM_004464.3:c.614G>A | NP_004455.2:p.Arg205Gln | |
| NM_033143.2:c.*138G>A | NP_149134.1:n.*138G>A | |
| NM_001291812.2:c.185G>A | NP_001278741.1:p.Arg62Gln | |
| NM_004464.4:c.614G>A MANE Select | NP_004455.2:p.Arg205Gln |