Linked Data
ClinVar Variation Id:
5412
ClinVar RCV Id:
RCV000005745
dbSNP Id:
rs104893663
PubMed:
PMID:12730114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189571759T>C , CM000664.2:g.189571759T>C | GRCh38 |
| NC_000002.11:g.190436485T>C , CM000664.1:g.190436485T>C | GRCh37 |
| NC_000002.10:g.190144730T>C | NCBI36 |
| NG_009027.1:g.14053A>G , LRG_837:g.14053A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.470A>G MANE Select | ENSP00000261024.3:p.Asp157Gly | |
| ENST00000261024.6:c.470A>G | ENSP00000261024.2:p.Asp157Gly | |
| ENST00000427241.5:c.470A>G | ENSP00000390005.1:p.Asp157Gly | |
| NM_014585.5:c.470A>G , LRG_837t1:c.470A>G | NP_055400.1:p.Asp157Gly | |
| XM_005246505.1:c.350A>G | XP_005246562.1:p.Asp117Gly | |
| XM_005246505.2:c.350A>G | XP_005246562.1:p.Asp117Gly | |
| XM_017003938.2:c.350A>G | XP_016859427.1:p.Asp117Gly | |
| NM_014585.6:c.470A>G MANE Select | NP_055400.1:p.Asp157Gly |