Linked Data
gnomAD v4:
4-80286480-G-A
COSMIC:
COSM4892883
MyVariant Identifiers:
chr4:g.81207634G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286480G>A , CM000666.2:g.80286480G>A | GRCh38 |
| NC_000004.11:g.81207634G>A , CM000666.1:g.81207634G>A | GRCh37 |
| NC_000004.10:g.81426658G>A | NCBI36 |
| NG_029501.1:g.24893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.615G>A MANE Select | ENSP00000311697.7:p.Arg205= | |
| ENST00000312465.11:c.615G>A | ENSP00000311697.7:p.Arg205= | |
| ENST00000456523.3:c.*139G>A | ENSP00000398353.3:n.*139G>A | |
| ENST00000503413.1:n.564G>A | ||
| ENST00000507780.1:c.342+11468G>A | ENSP00000423903.1:n.342+11468G>A | |
| NM_001291812.1:c.186G>A | NP_001278741.1:p.Arg62= | |
| NM_004464.3:c.615G>A | NP_004455.2:p.Arg205= | |
| NM_033143.2:c.*139G>A | NP_149134.1:n.*139G>A | |
| NM_001291812.2:c.186G>A | NP_001278741.1:p.Arg62= | |
| NM_004464.4:c.615G>A MANE Select | NP_004455.2:p.Arg205= |