Linked Data
ClinVar Variation Id:
1114815
ClinVar RCV Id:
RCV001442649
dbSNP Id:
rs763437650
ExAC:
1:68897004 A / G
gnomAD v2:
1-68897004-A-G
gnomAD v3:
1-68431321-A-G
gnomAD v4:
1-68431321-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431321A>G , CM000663.2:g.68431321A>G | GRCh38 |
| NC_000001.10:g.68897004A>G , CM000663.1:g.68897004A>G | GRCh37 |
| NC_000001.9:g.68669592A>G | NCBI36 |
| NG_008472.1:g.23639T>C | |
| NG_008472.2:g.23639T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1299T>C MANE Select | ENSP00000262340.5:p.Tyr433= | |
| ENST00000262340.5:c.1299T>C | ENSP00000262340.5:p.Tyr433= | |
| NM_000329.2:c.1299T>C | NP_000320.1:p.Tyr433= | |
| XM_017002027.1:c.1023T>C | XP_016857516.1:p.Tyr341= | |
| NM_000329.3:c.1299T>C MANE Select | NP_000320.1:p.Tyr433= |