Linked Data
ClinVar Variation Id:
787750
ClinVar RCV Id:
RCV000970050
dbSNP Id:
rs11802443
ExAC:
1:79402017 A / G
gnomAD v2:
1-79402017-A-G
gnomAD v3:
1-78936332-A-G
gnomAD v4:
1-78936332-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.78936332A>G , CM000663.2:g.78936332A>G | GRCh38 |
| NC_000001.10:g.79402017A>G , CM000663.1:g.79402017A>G | GRCh37 |
| NC_000001.9:g.79174605A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370742.4:c.840T>C MANE Select | ENSP00000359778.3:p.Asn280= | |
| ENST00000640664.2:c.840T>C | ENSP00000491199.2:p.Asn280= | |
| ENST00000655029.1:c.705T>C | ENSP00000499618.1:p.Asn235= | |
| ENST00000656841.1:c.705T>C | ENSP00000499228.1:p.Asn235= | |
| ENST00000661030.1:c.705T>C | ENSP00000499792.1:p.Asn235= | |
| ENST00000662895.1:c.588T>C | ENSP00000499579.1:p.Asn196= | |
| ENST00000671209.1:c.840T>C | ENSP00000499515.1:p.Asn280= | |
| ENST00000370742.3:c.840T>C | ENSP00000359778.3:p.Asn280= | |
| NM_022159.3:c.840T>C | NP_071442.2:p.Asn280= | |
| NM_022159.4:c.840T>C MANE Select | NP_071442.2:p.Asn280= |