Linked Data
dbSNP Id:
rs1425995053
COSMIC:
COSM713993
MyVariant Identifiers:
chr19:g.6697786G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697775G>A , CM000681.2:g.6697775G>A | GRCh38 |
| NC_000019.9:g.6697786G>A , CM000681.1:g.6697786G>A | GRCh37 |
| NC_000019.8:g.6648786G>A | NCBI36 |
| NG_009557.1:g.27877C>T , LRG_27:g.27877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.808C>T | ||
| ENST00000695652.1:c.2337C>T | ENSP00000512083.1:p.Pro779= | |
| ENST00000695653.1:c.369C>T | ENSP00000512084.1:p.Pro123= | |
| ENST00000695654.1:c.1584C>T | ENSP00000512085.1:p.Pro528= | |
| ENST00000695655.1:c.1401C>T | ENSP00000512086.1:n.1401C>T | |
| ENST00000695692.1:n.1824C>T | ||
| ENST00000245907.11:c.2460C>T MANE Select | ENSP00000245907.4:p.Pro820= | |
| ENST00000245907.10:c.2460C>T | ENSP00000245907.4:p.Pro820= | |
| ENST00000602053.1:n.508C>T | ||
| NM_000064.3:c.2460C>T | NP_000055.2:p.Pro820= | |
| NM_000064.4:c.2460C>T MANE Select | NP_000055.2:p.Pro820= |