Linked Data
ClinVar Variation Id:
44195
dbSNP Id:
rs397516663
ExAC:
X:69176971 A / C
gnomAD v2:
X-69176971-A-C
gnomAD v3:
X-69957121-A-C
gnomAD v4:
X-69957121-A-C
PubMed:
PMID:18821982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69957121A>C , CM000685.2:g.69957121A>C | GRCh38 |
| NC_000023.10:g.69176971A>C , CM000685.1:g.69176971A>C | GRCh37 |
| NC_000023.9:g.69093696A>C | NCBI36 |
| NG_009809.1:g.346061A>C | |
| NG_009809.2:g.346055A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.491A>C MANE Select | ENSP00000363680.4:p.Glu164Ala | |
| ENST00000374548.5:n.733A>C | ||
| ENST00000374552.8:c.491A>C | ENSP00000363680.4:p.Glu164Ala | |
| ENST00000374553.6:c.491A>C | ENSP00000363681.2:p.Glu164Ala | |
| ENST00000502251.5:n.784A>C | ||
| ENST00000503592.5:c.95A>C | ENSP00000423037.1:p.Glu32Ala | |
| ENST00000524573.5:c.491A>C | ENSP00000432585.1:p.Glu164Ala | |
| ENST00000533317.5:n.1106A>C | ||
| ENST00000616899.1:c.95A>C | ENSP00000481963.1:p.Glu32Ala | |
| NM_001005609.1:c.491A>C | NP_001005609.1:p.Glu164Ala | |
| NM_001005612.2:c.491A>C | NP_001005612.2:p.Glu164Ala | |
| NM_001399.4:c.491A>C | NP_001390.1:p.Glu164Ala | |
| XM_006724630.2:c.491A>C | XP_006724693.1:p.Glu164Ala | |
| XM_011530885.1:c.491A>C | XP_011529187.1:p.Glu164Ala | |
| XM_011530885.2:c.491A>C | XP_011529187.1:p.Glu164Ala | |
| XM_017029336.1:c.491A>C | XP_016884825.1:p.Glu164Ala | |
| NM_001399.5:c.491A>C MANE Select | NP_001390.1:p.Glu164Ala | |
| NM_001005609.2:c.491A>C | NP_001005609.1:p.Glu164Ala | |
| NM_001005612.3:c.491A>C | NP_001005612.2:p.Glu164Ala |