Linked Data
ClinVar Variation Id:
775031
ClinVar RCV Id:
RCV000955123
dbSNP Id:
rs374824991
ExAC:
X:69176949 A / G
gnomAD v2:
X-69176949-A-G
gnomAD v3:
X-69957099-A-G
gnomAD v4:
X-69957099-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69957099A>G , CM000685.2:g.69957099A>G | GRCh38 |
| NC_000023.10:g.69176949A>G , CM000685.1:g.69176949A>G | GRCh37 |
| NC_000023.9:g.69093674A>G | NCBI36 |
| NG_009809.1:g.346039A>G | |
| NG_009809.2:g.346033A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.469A>G MANE Select | ENSP00000363680.4:p.Asn157Asp | |
| ENST00000374548.5:n.711A>G | ||
| ENST00000374552.8:c.469A>G | ENSP00000363680.4:p.Asn157Asp | |
| ENST00000374553.6:c.469A>G | ENSP00000363681.2:p.Asn157Asp | |
| ENST00000502251.5:n.762A>G | ||
| ENST00000503592.5:c.73A>G | ENSP00000423037.1:p.Asn25Asp | |
| ENST00000524573.5:c.469A>G | ENSP00000432585.1:p.Asn157Asp | |
| ENST00000533317.5:n.1084A>G | ||
| ENST00000616899.1:c.73A>G | ENSP00000481963.1:p.Asn25Asp | |
| NM_001005609.1:c.469A>G | NP_001005609.1:p.Asn157Asp | |
| NM_001005612.2:c.469A>G | NP_001005612.2:p.Asn157Asp | |
| NM_001399.4:c.469A>G | NP_001390.1:p.Asn157Asp | |
| XM_006724630.2:c.469A>G | XP_006724693.1:p.Asn157Asp | |
| XM_011530885.1:c.469A>G | XP_011529187.1:p.Asn157Asp | |
| XM_011530885.2:c.469A>G | XP_011529187.1:p.Asn157Asp | |
| XM_017029336.1:c.469A>G | XP_016884825.1:p.Asn157Asp | |
| NM_001399.5:c.469A>G MANE Select | NP_001390.1:p.Asn157Asp | |
| NM_001005609.2:c.469A>G | NP_001005609.1:p.Asn157Asp | |
| NM_001005612.3:c.469A>G | NP_001005612.2:p.Asn157Asp |