Linked Data
MyVariant Identifiers:
chr7:g.142654941A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957854A>C , CM000669.2:g.142957854A>C | GRCh38 |
| NC_000007.13:g.142654941A>C , CM000669.1:g.142654941A>C | GRCh37 |
| NC_000007.12:g.142365063A>C | NCBI36 |
| NG_007492.1:g.9563T>G | |
| NG_007492.2:g.9563T>G | |
| NG_007492.3:g.9563T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.645T>G MANE Select | ENSP00000347409.2:p.Pro215= | |
| ENST00000467543.6:c.*497T>G | ENSP00000420011.2:n.*497T>G | |
| ENST00000355265.6:c.645T>G | ENSP00000347409.2:p.Pro215= | |
| ENST00000467543.5:c.588T>G | ENSP00000420011.1:p.Pro196= | |
| ENST00000476829.5:c.525+450T>G | ENSP00000419889.1:n.525+450T>G | |
| ENST00000479768.6:n.763T>G | ||
| ENST00000494148.1:n.244T>G | ||
| NM_000420.2:c.645T>G | NP_000411.1:p.Pro215= | |
| XM_005249993.2:c.681T>G | XP_005250050.1:p.Pro227= | |
| NM_000420.3:c.645T>G MANE Select | NP_000411.1:p.Pro215= |