Linked Data
ClinVar Variation Id:
9149
ClinVar RCV Id:
RCV000009720
dbSNP Id:
rs104894375
PubMed:
PMID:17273968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98595490G>A , CM000674.2:g.98595490G>A | GRCh38 |
| NC_000012.11:g.98989268G>A , CM000674.1:g.98989268G>A | GRCh37 |
| NC_000012.10:g.97513399G>A | NCBI36 |
| NG_011702.1:g.6866G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228318.8:c.215G>A MANE Plus Clinical | ENSP00000228318.3:p.Gly72Glu | |
| ENST00000552981.6:c.158-237G>A MANE Select | ENSP00000448708.2:n.158-237G>A | |
| ENST00000188376.9:c.158-237G>A | ENSP00000188376.5:n.158-237G>A | |
| ENST00000228318.7:c.215G>A | ENSP00000228318.3:p.Gly72Glu | |
| ENST00000401722.7:c.158-237G>A | ENSP00000383898.3:n.158-237G>A | |
| ENST00000546766.5:n.1602G>A | ||
| ENST00000547534.5:c.158-237G>A | ENSP00000449793.1:n.158-237G>A | |
| ENST00000548046.5:c.215G>A | ENSP00000447339.1:p.Gly72Glu | |
| ENST00000548847.1:c.158-237G>A | ENSP00000449166.1:n.158-237G>A | |
| ENST00000549338.5:c.158-237G>A | ENSP00000447740.1:n.158-237G>A | |
| ENST00000550695.1:c.215G>A | ENSP00000449479.1:p.Gly72Glu | |
| ENST00000551123.5:c.215G>A | ENSP00000449009.1:p.Gly72Glu | |
| ENST00000551917.5:c.215G>A | ENSP00000447310.1:p.Gly72Glu | |
| ENST00000552981.5:c.158-237G>A | ENSP00000448708.1:n.158-237G>A | |
| NM_002635.3:c.158-237G>A | NP_002626.1:n.158-237G>A | |
| NM_005888.3:c.215G>A | NP_005879.1:p.Gly72Glu | |
| NM_213611.2:c.158-237G>A | NP_998776.1:n.158-237G>A | |
| NM_002635.4:c.158-237G>A MANE Select | NP_002626.1:n.158-237G>A | |
| NM_213611.3:c.158-237G>A | NP_998776.1:n.158-237G>A | |
| NM_005888.4:c.215G>A MANE Plus Clinical | NP_005879.1:p.Gly72Glu |