Linked Data
MyVariant Identifiers:
chr7:g.142651361G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954274G>T , CM000669.2:g.142954274G>T | GRCh38 |
| NC_000007.13:g.142651361G>T , CM000669.1:g.142651361G>T | GRCh37 |
| NC_000007.12:g.142361483G>T | NCBI36 |
| NG_007492.1:g.13143C>A | |
| NG_007492.2:g.13143C>A | |
| NG_007492.3:g.13143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.834C>A MANE Select | ENSP00000347409.2:p.Ile278= | |
| ENST00000355265.6:c.834C>A | ENSP00000347409.2:p.Ile278= | |
| ENST00000479768.6:n.952C>A | ||
| NM_000420.2:c.834C>A | NP_000411.1:p.Ile278= | |
| XM_005249993.2:c.870C>A | XP_005250050.1:p.Ile290= | |
| XM_005249994.3:c.-114C>A | XP_005250051.1:n.-114C>A | |
| NM_000420.3:c.834C>A MANE Select | NP_000411.1:p.Ile278= |