Linked Data
MyVariant Identifiers:
chr7:g.142655046G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957959G>T , CM000669.2:g.142957959G>T | GRCh38 |
| NC_000007.13:g.142655046G>T , CM000669.1:g.142655046G>T | GRCh37 |
| NC_000007.12:g.142365168G>T | NCBI36 |
| NG_007492.1:g.9458C>A | |
| NG_007492.2:g.9458C>A | |
| NG_007492.3:g.9458C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.540C>A MANE Select | ENSP00000347409.2:p.Arg180= | |
| ENST00000467543.6:c.*392C>A | ENSP00000420011.2:n.*392C>A | |
| ENST00000355265.6:c.540C>A | ENSP00000347409.2:p.Arg180= | |
| ENST00000467543.5:c.483C>A | ENSP00000420011.1:p.Arg161= | |
| ENST00000476829.5:c.525+345C>A | ENSP00000419889.1:n.525+345C>A | |
| ENST00000479768.6:n.658C>A | ||
| ENST00000494148.1:n.139C>A | ||
| NM_000420.2:c.540C>A | NP_000411.1:p.Arg180= | |
| XM_005249993.2:c.576C>A | XP_005250050.1:p.Arg192= | |
| NM_000420.3:c.540C>A MANE Select | NP_000411.1:p.Arg180= |