Linked Data
ClinVar Variation Id:
98871
ClinVar RCV Id:
RCV000085201
RCV000332977
RCV000296314
RCV000674828
RCV001275290
RCV001699122
RCV004527315
dbSNP Id:
rs62642581
ExAC:
1:68914353 A / G
gnomAD v2:
1-68914353-A-G
gnomAD v3:
1-68448670-A-G
gnomAD v4:
1-68448670-A-G
ERepo:
CA226554/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68448670A>G , CM000663.2:g.68448670A>G | GRCh38 |
| NC_000001.10:g.68914353A>G , CM000663.1:g.68914353A>G | GRCh37 |
| NC_000001.9:g.68686941A>G | NCBI36 |
| NG_008472.1:g.6290T>C | |
| NG_008472.2:g.6290T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.48T>C MANE Select | ENSP00000262340.5:p.Phe16= | |
| ENST00000262340.5:c.48T>C | ENSP00000262340.5:p.Phe16= | |
| NM_000329.2:c.48T>C | NP_000320.1:p.Phe16= | |
| XM_017002027.1:c.-78T>C | XP_016857516.1:n.-78T>C | |
| NM_000329.3:c.48T>C MANE Select | NP_000320.1:p.Phe16= |