Linked Data
ClinVar Variation Id:
5417
ClinVar RCV Id:
RCV000005750
dbSNP Id:
rs104893673
PubMed:
PMID:16351644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575193C>A , CM000664.2:g.189575193C>A | GRCh38 |
| NC_000002.11:g.190439919C>A , CM000664.1:g.190439919C>A | GRCh37 |
| NC_000002.10:g.190148164C>A | NCBI36 |
| NG_009027.1:g.10619G>T , LRG_837:g.10619G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.239G>T MANE Select | ENSP00000261024.3:p.Gly80Val | |
| ENST00000261024.6:c.239G>T | ENSP00000261024.2:p.Gly80Val | |
| ENST00000418714.1:n.680G>T | ||
| ENST00000427241.5:c.239G>T | ENSP00000390005.1:p.Gly80Val | |
| ENST00000479598.5:n.520G>T | ||
| NM_014585.5:c.239G>T , LRG_837t1:c.239G>T | NP_055400.1:p.Gly80Val | |
| XM_005246505.1:c.119G>T | XP_005246562.1:p.Gly40Val | |
| XM_005246505.2:c.119G>T | XP_005246562.1:p.Gly40Val | |
| XM_017003938.2:c.119G>T | XP_016859427.1:p.Gly40Val | |
| NM_014585.6:c.239G>T MANE Select | NP_055400.1:p.Gly80Val |