Linked Data
ClinVar Variation Id:
1268
ClinVar RCV Id:
RCV000001330
dbSNP Id:
rs267606675
PubMed:
PMID:19796186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31317679G>A , CM000675.2:g.31317679G>A | GRCh38 |
| NC_000013.10:g.31891816G>A , CM000675.1:g.31891816G>A | GRCh37 |
| NC_000013.9:g.30789816G>A | NCBI36 |
| NG_011732.1:g.122705G>A | |
| NG_011732.2:g.122705G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343307.5:c.1178G>A MANE Select | ENSP00000343002.4:p.Gly393Glu | |
| ENST00000343307.4:c.1178G>A | ENSP00000343002.4:p.Gly393Glu | |
| NM_194318.3:c.1178G>A | NP_919299.3:p.Gly393Glu | |
| XM_006719768.2:c.1121G>A | XP_006719831.1:p.Gly374Glu | |
| XM_011534936.1:c.1065-6072G>A | XP_011533238.1:n.1065-6072G>A | |
| XM_011534937.1:c.1058G>A | XP_011533239.1:p.Gly353Glu | |
| XM_011534938.1:c.1031G>A | XP_011533240.1:p.Gly344Glu | |
| XM_006719768.3:c.1121G>A | XP_006719831.1:p.Gly374Glu | |
| XM_011534938.2:c.1031G>A | XP_011533240.1:p.Gly344Glu | |
| XM_017020395.1:c.1031G>A | XP_016875884.1:p.Gly344Glu | |
| NM_194318.4:c.1178G>A MANE Select | NP_919299.3:p.Gly393Glu |