Linked Data
ClinVar Variation Id:
379400
ClinVar RCV Id:
RCV000418727
dbSNP Id:
rs1057520594
gnomAD v4:
X-153694013-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694013G>A , CM000685.2:g.153694013G>A | GRCh38 |
| NC_000023.10:g.152959468G>A , CM000685.1:g.152959468G>A | GRCh37 |
| NC_000023.9:g.152612662G>A | NCBI36 |
| NG_012016.1:g.10717G>A | |
| NG_012016.2:g.10717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1250G>A MANE Select | ENSP00000253122.5:p.Ser417Asn | |
| ENST00000253122.9:c.1250G>A | ENSP00000253122.5:p.Ser417Asn | |
| ENST00000413787.1:c.258-191G>A | ENSP00000400463.1:n.258-191G>A | |
| ENST00000430077.6:c.905G>A | ENSP00000403041.2:p.Ser302Asn | |
| ENST00000442457.1:c.304G>A | ||
| ENST00000457723.1:c.234G>A | ENSP00000394742.1:p.Gln78= | |
| ENST00000485324.1:n.1283G>A | ||
| NM_001142805.1:c.1220G>A | NP_001136277.1:p.Ser407Asn | |
| NM_001142806.1:c.905G>A | NP_001136278.1:p.Ser302Asn | |
| NM_005629.3:c.1250G>A | NP_005620.1:p.Ser417Asn | |
| NM_005629.4:c.1250G>A MANE Select | NP_005620.1:p.Ser417Asn | |
| NM_001142805.2:c.1220G>A | NP_001136277.1:p.Ser407Asn |