Linked Data
MyVariant Identifiers:
chr6:g.32782248C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814471C>T , CM000668.2:g.32814471C>T | GRCh38 |
| NC_000006.11:g.32782248C>T , CM000668.1:g.32782248C>T | GRCh37 |
| NC_000006.10:g.32890226C>T | NCBI36 |
| NG_009793.3:g.29300G>A | |
| NG_012008.1:g.7578G>A | |
| NG_009793.4:g.29300G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438763.7:c.492G>A MANE Select | ENSP00000390020.2:p.Glu164= | |
| ENST00000648009.1:c.492G>A | ENSP00000496848.1:p.Glu164= | |
| ENST00000438763.6:c.492G>A | ENSP00000390020.2:p.Glu164= | |
| ENST00000447394.1:c.442G>A | ||
| ENST00000452392.2:c.2313G>A | ENSP00000391806.2:p.Glu771= | |
| ENST00000475235.1:n.529G>A | ||
| ENST00000488325.5:c.*263G>A | ENSP00000436618.1:n.*263G>A | |
| NM_002120.3:c.492G>A | NP_002111.1:p.Glu164= | |
| NM_002120.4:c.492G>A MANE Select | NP_002111.1:p.Glu164= |