Linked Data
ClinVar Variation Id:
48347
ClinVar RCV Id:
RCV000041668
RCV000710349
RCV000727128
RCV001074772
RCV000411779
RCV001723627
RCV000824797
dbSNP Id:
rs369522997
ExAC:
1:216498754 T / G
gnomAD v2:
1-216498754-T-G
gnomAD v3:
1-216325412-T-G
gnomAD v4:
1-216325412-T-G
ERepo:
CA262054/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216325412T>G , CM000663.2:g.216325412T>G | GRCh38 |
| NC_000001.10:g.216498754T>G , CM000663.1:g.216498754T>G | GRCh37 |
| NC_000001.9:g.214565377T>G | NCBI36 |
| NG_009497.1:g.102985A>C | |
| NG_009497.2:g.103037A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.1036A>C MANE Select | ENSP00000305941.3:p.Asn346His | |
| ENST00000674083.1:c.1036A>C | ENSP00000501296.1:p.Asn346His | |
| ENST00000307340.7:c.1036A>C | ENSP00000305941.3:p.Asn346His | |
| ENST00000366942.3:c.1036A>C | ENSP00000355909.3:p.Asn346His | |
| NM_007123.5:c.1036A>C | NP_009054.5:p.Asn346His | |
| NM_206933.2:c.1036A>C | NP_996816.2:p.Asn346His | |
| NM_206933.3:c.1036A>C | NP_996816.2:p.Asn346His | |
| NM_007123.6:c.1036A>C | NP_009054.6:p.Asn346His | |
| NM_206933.4:c.1036A>C MANE Select | NP_996816.3:p.Asn346His |