Linked Data
ClinVar Variation Id:
5415
ClinVar RCV Id:
RCV000005748
dbSNP Id:
rs104893671
PubMed:
PMID:12730114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189564018C>A , CM000664.2:g.189564018C>A | GRCh38 |
| NC_000002.11:g.190428744C>A , CM000664.1:g.190428744C>A | GRCh37 |
| NC_000002.10:g.190136989C>A | NCBI36 |
| NG_009027.1:g.21794G>T , LRG_837:g.21794G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.968G>T MANE Select | ENSP00000261024.3:p.Gly323Val | |
| ENST00000261024.6:c.968G>T | ENSP00000261024.2:p.Gly323Val | |
| NM_014585.5:c.968G>T , LRG_837t1:c.968G>T | NP_055400.1:p.Gly323Val | |
| XM_005246505.1:c.848G>T | XP_005246562.1:p.Gly283Val | |
| XM_005246505.2:c.848G>T | XP_005246562.1:p.Gly283Val | |
| XM_017003938.2:c.848G>T | XP_016859427.1:p.Gly283Val | |
| NM_014585.6:c.968G>T MANE Select | NP_055400.1:p.Gly323Val |