Linked Data
gnomAD v3:
10-80273835-G-A
gnomAD v4:
10-80273835-G-A
COSMIC:
COSM5534319
MyVariant Identifiers:
chr10:g.82033591G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273835G>A , CM000672.2:g.80273835G>A | GRCh38 |
| NC_000010.10:g.82033591G>A , CM000672.1:g.82033591G>A | GRCh37 |
| NC_000010.9:g.82023571G>A | NCBI36 |
| NG_008083.1:g.20844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1134C>T MANE Select | ENSP00000361287.3:p.Gly378= | |
| ENST00000372213.7:c.1134C>T | ENSP00000361287.3:p.Gly378= | |
| ENST00000480845.1:n.366C>T | ||
| ENST00000485270.5:n.646C>T | ||
| NM_000429.2:c.1134C>T | NP_000420.1:p.Gly378= | |
| XM_005269842.3:c.1134C>T | XP_005269899.1:p.Gly378= | |
| XM_005269843.3:c.1011C>T | XP_005269900.1:p.Gly337= | |
| NM_000429.3:c.1134C>T MANE Select | NP_000420.1:p.Gly378= |