Linked Data
ClinVar Variation Id:
10775
dbSNP Id:
rs121918363
ExAC:
X:99922289 A / G
gnomAD v2:
X-99922289-A-G
gnomAD v3:
X-100667292-A-G
gnomAD v4:
X-100667292-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100667292A>G , CM000685.2:g.100667292A>G | GRCh38 |
| NC_000023.10:g.99922289A>G , CM000685.1:g.99922289A>G | GRCh37 |
| NC_000023.9:g.99808945A>G | NCBI36 |
| NG_021337.1:g.28127A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373004.5:c.980A>G MANE Select | ENSP00000362095.3:p.Asn327Ser | |
| ENST00000638920.1:n.983A>G | ||
| ENST00000640282.1:c.26A>G | ENSP00000491188.1:p.Asn9Ser | |
| ENST00000677630.1:n.914A>G | ||
| ENST00000679590.1:n.1013A>G | ||
| ENST00000373004.3:c.980A>G | ENSP00000362095.3:p.Asn327Ser | |
| NM_014467.2:c.980A>G | NP_055282.1:p.Asn327Ser | |
| XM_005262121.2:c.980A>G | XP_005262178.1:p.Asn327Ser | |
| NM_014467.3:c.980A>G MANE Select | NP_055282.1:p.Asn327Ser |