Linked Data
ClinVar Variation Id:
875
ClinVar RCV Id:
RCV000000923
dbSNP Id:
rs121918187
PubMed:
PMID:16731295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293214G>A , CM000684.2:g.45293214G>A | GRCh38 |
| NC_000022.10:g.45689095G>A , CM000684.1:g.45689095G>A | GRCh37 |
| NC_000022.9:g.44067759G>A | NCBI36 |
| NG_016203.1:g.13228G>A | |
| NG_016203.2:g.13228G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216211.9:c.605G>A MANE Select | ENSP00000216211.4:p.Gly202Asp | |
| ENST00000216211.8:c.605G>A | ENSP00000216211.4:p.Gly202Asp | |
| ENST00000396082.2:c.242G>A | ENSP00000379391.2:p.Gly81Asp | |
| NM_001167574.1:c.242G>A | NP_001161046.1:p.Gly81Asp | |
| NM_006953.3:c.605G>A | NP_008884.1:p.Gly202Asp | |
| XM_011530364.1:c.611G>A | XP_011528666.1:p.Gly204Asp | |
| XM_011530365.1:c.248G>A | XP_011528667.1:p.Gly83Asp | |
| NM_006953.4:c.605G>A MANE Select | NP_008884.1:p.Gly202Asp | |
| NM_001167574.2:c.242G>A | NP_001161046.1:p.Gly81Asp |