Linked Data
ClinVar Variation Id:
2929154
ClinVar RCV Id:
RCV003781880
dbSNP Id:
rs1802447084
COSMIC:
COSM3635180
MyVariant Identifiers:
chr7:g.143018932G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321839G>A , CM000669.2:g.143321839G>A | GRCh38 |
| NC_000007.13:g.143018932G>A , CM000669.1:g.143018932G>A | GRCh37 |
| NC_000007.12:g.142729054G>A | NCBI36 |
| NG_009815.1:g.10714G>A | |
| NG_009815.2:g.10714G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.687G>A | ENSP00000498052.2:p.Val229= | |
| ENST00000343257.7:c.687G>A MANE Select | ENSP00000339867.2:p.Val229= | |
| ENST00000432192.6:c.455G>A | ||
| ENST00000455478.6:c.141G>A | ENSP00000400027.2:p.Val47= | |
| ENST00000650516.1:c.687G>A | ENSP00000498052.1:p.Val229= | |
| ENST00000343257.6:c.687G>A | ENSP00000339867.2:p.Val229= | |
| ENST00000432192.5:c.145G>A | ||
| ENST00000455478.5:c.145G>A | ||
| ENST00000495612.1:n.145G>A | ||
| NM_000083.2:c.687G>A | NP_000074.2:p.Val229= | |
| NR_046453.1:n.774G>A | ||
| XM_011515781.1:c.687G>A | XP_011514083.1:p.Val229= | |
| XM_017011739.1:c.394G>A | XP_016867228.1:p.Gly132Arg | |
| XM_017011740.1:c.394G>A | XP_016867229.1:p.Gly132Arg | |
| NM_000083.3:c.687G>A MANE Select | NP_000074.3:p.Val229= | |
| NR_046453.2:n.789G>A |