Linked Data
ClinVar Variation Id:
437866
ClinVar RCV Id:
RCV000504571
dbSNP Id:
rs183758503
ExAC:
1:118635883 C / G
gnomAD v2:
1-118635883-C-G
gnomAD v3:
1-118093260-C-G
gnomAD v4:
1-118093260-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.118093260C>G , CM000663.2:g.118093260C>G | GRCh38 |
| NC_000001.10:g.118635883C>G , CM000663.1:g.118635883C>G | GRCh37 |
| NC_000001.9:g.118437406C>G | NCBI36 |
| NG_053041.1:g.96966G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336338.10:c.1069G>C MANE Select | ENSP00000337804.5:p.Asp357His | |
| ENST00000336338.9:c.1069G>C | ENSP00000337804.5:p.Asp357His | |
| NM_206996.2:c.1069G>C | NP_996879.1:p.Asp357His | |
| XM_006710426.2:c.1069G>C | XP_006710489.1:p.Asp357His | |
| XM_006710427.2:c.874G>C | XP_006710490.1:p.Asp292His | |
| XM_011540934.1:c.1069G>C | XP_011539236.1:p.Asp357His | |
| XM_011540935.1:c.730G>C | XP_011539237.1:p.Asp244His | |
| XM_011540938.1:c.1069G>C | XP_011539240.1:p.Asp357His | |
| XR_946574.1:n.1137G>C | ||
| NM_206996.3:c.1069G>C | NP_996879.1:p.Asp357His | |
| XM_006710426.3:c.1069G>C | XP_006710489.1:p.Asp357His | |
| XM_006710427.3:c.874G>C | XP_006710490.1:p.Asp292His | |
| XM_011540935.2:c.730G>C | XP_011539237.1:p.Asp244His | |
| NM_206996.4:c.1069G>C MANE Select | NP_996879.1:p.Asp357His |