Linked Data
MyVariant Identifiers:
chr7:g.142654944A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957857A>G , CM000669.2:g.142957857A>G | GRCh38 |
| NC_000007.13:g.142654944A>G , CM000669.1:g.142654944A>G | GRCh37 |
| NC_000007.12:g.142365066A>G | NCBI36 |
| NG_007492.1:g.9560T>C | |
| NG_007492.2:g.9560T>C | |
| NG_007492.3:g.9560T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.642T>C MANE Select | ENSP00000347409.2:p.His214= | |
| ENST00000467543.6:c.*494T>C | ENSP00000420011.2:n.*494T>C | |
| ENST00000355265.6:c.642T>C | ENSP00000347409.2:p.His214= | |
| ENST00000467543.5:c.585T>C | ENSP00000420011.1:p.His195= | |
| ENST00000476829.5:c.525+447T>C | ENSP00000419889.1:n.525+447T>C | |
| ENST00000479768.6:n.760T>C | ||
| ENST00000494148.1:n.241T>C | ||
| NM_000420.2:c.642T>C | NP_000411.1:p.His214= | |
| XM_005249993.2:c.678T>C | XP_005250050.1:p.His226= | |
| NM_000420.3:c.642T>C MANE Select | NP_000411.1:p.His214= |