Linked Data
MyVariant Identifiers:
chr7:g.142655010T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957923T>G , CM000669.2:g.142957923T>G | GRCh38 |
| NC_000007.13:g.142655010T>G , CM000669.1:g.142655010T>G | GRCh37 |
| NC_000007.12:g.142365132T>G | NCBI36 |
| NG_007492.1:g.9494A>C | |
| NG_007492.2:g.9494A>C | |
| NG_007492.3:g.9494A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.576A>C MANE Select | ENSP00000347409.2:p.Arg192= | |
| ENST00000467543.6:c.*428A>C | ENSP00000420011.2:n.*428A>C | |
| ENST00000355265.6:c.576A>C | ENSP00000347409.2:p.Arg192= | |
| ENST00000467543.5:c.519A>C | ENSP00000420011.1:p.Arg173= | |
| ENST00000476829.5:c.525+381A>C | ENSP00000419889.1:n.525+381A>C | |
| ENST00000479768.6:n.694A>C | ||
| ENST00000494148.1:n.175A>C | ||
| NM_000420.2:c.576A>C | NP_000411.1:p.Arg192= | |
| XM_005249993.2:c.612A>C | XP_005250050.1:p.Arg204= | |
| NM_000420.3:c.576A>C MANE Select | NP_000411.1:p.Arg192= |