Linked Data
gnomAD v4:
5-81206890-G-A
COSMIC:
COSM5403931
MyVariant Identifiers:
chr5:g.80502709G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206890G>A , CM000667.2:g.81206890G>A | GRCh38 |
| NC_000005.9:g.80502709G>A , CM000667.1:g.80502709G>A | GRCh37 |
| NC_000005.8:g.80538465G>A | NCBI36 |
| NG_030334.1:g.251202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2952G>A MANE Select | ENSP00000265080.4:p.Glu984= | |
| ENST00000265080.8:c.2952G>A | ENSP00000265080.4:p.Glu984= | |
| ENST00000503795.1:c.2952G>A | ENSP00000421771.1:p.Glu984= | |
| NM_006909.2:c.2952G>A | NP_008840.1:p.Glu984= | |
| XM_017009682.2:c.2667G>A | XP_016865171.1:p.Glu889= | |
| XR_002956166.1:n.3068G>A | ||
| NM_006909.3:c.2952G>A MANE Select | NP_008840.1:p.Glu984= |