Linked Data
ClinVar Variation Id:
5418
ClinVar RCV Id:
RCV000005751
dbSNP Id:
rs104893664
ExAC:
2:190428912 C / T
gnomAD v2:
2-190428912-C-T
gnomAD v3:
2-189564186-C-T
gnomAD v4:
2-189564186-C-T
PubMed:
PMID:16351644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189564186C>T , CM000664.2:g.189564186C>T | GRCh38 |
| NC_000002.11:g.190428912C>T , CM000664.1:g.190428912C>T | GRCh37 |
| NC_000002.10:g.190137157C>T | NCBI36 |
| NG_009027.1:g.21626G>A , LRG_837:g.21626G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.800G>A MANE Select | ENSP00000261024.3:p.Gly267Asp | |
| ENST00000261024.6:c.800G>A | ENSP00000261024.2:p.Gly267Asp | |
| NM_014585.5:c.800G>A , LRG_837t1:c.800G>A | NP_055400.1:p.Gly267Asp | |
| XM_005246505.1:c.680G>A | XP_005246562.1:p.Gly227Asp | |
| XM_005246505.2:c.680G>A | XP_005246562.1:p.Gly227Asp | |
| XM_017003938.2:c.680G>A | XP_016859427.1:p.Gly227Asp | |
| NM_014585.6:c.800G>A MANE Select | NP_055400.1:p.Gly267Asp |