Linked Data
ClinVar Variation Id:
879546
dbSNP Id:
rs983665281
gnomAD v2:
10-73544772-G-A
gnomAD v3:
10-71785015-G-A
gnomAD v4:
10-71785015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71785015G>A , CM000672.2:g.71785015G>A | GRCh38 |
| NC_000010.10:g.73544772G>A , CM000672.1:g.73544772G>A | GRCh37 |
| NC_000010.9:g.73214778G>A | NCBI36 |
| NG_008835.1:g.393069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5627G>A MANE Select | ENSP00000224721.9:p.Ser1876Asn | |
| ENST00000224721.10:c.5642G>A | ENSP00000224721.8:p.Ser1881Asn | |
| ENST00000622827.4:c.5627G>A | ENSP00000483211.1:p.Ser1876Asn | |
| NM_022124.5:c.5627G>A | NP_071407.4:p.Ser1876Asn | |
| XM_006717940.2:c.5822G>A | XP_006718003.1:p.Ser1941Asn | |
| XM_006717942.2:c.5756G>A | XP_006718005.1:p.Ser1919Asn | |
| XM_011540039.1:c.5819G>A | XP_011538341.1:p.Ser1940Asn | |
| XM_011540040.1:c.5816G>A | XP_011538342.1:p.Ser1939Asn | |
| XM_011540041.1:c.5762G>A | XP_011538343.1:p.Ser1921Asn | |
| XM_011540042.1:c.5822G>A | XP_011538344.1:p.Ser1941Asn | |
| XM_011540043.1:c.5822G>A | XP_011538345.1:p.Ser1941Asn | |
| XM_011540044.1:c.5687G>A | XP_011538346.1:p.Ser1896Asn | |
| XM_011540045.1:c.5822G>A | XP_011538347.1:p.Ser1941Asn | |
| XM_011540046.1:c.5282G>A | XP_011538348.1:p.Ser1761Asn | |
| XM_011540047.1:c.4640G>A | XP_011538349.1:p.Ser1547Asn | |
| XM_011540048.1:c.5822G>A | XP_011538350.1:p.Ser1941Asn | |
| XM_011540049.1:c.5822G>A | XP_011538351.1:p.Ser1941Asn | |
| XM_011540050.1:c.5822G>A | XP_011538352.1:p.Ser1941Asn | |
| XM_011540051.1:c.5822G>A | XP_011538353.1:p.Ser1941Asn | |
| XM_011540052.1:c.2150G>A | XP_011538354.1:p.Ser717Asn | |
| XM_011540053.1:c.5822G>A | XP_011538355.1:p.Ser1941Asn | |
| XR_945796.1:n.6065G>A | ||
| NM_022124.6:c.5627G>A MANE Select | NP_071407.4:p.Ser1876Asn |