Linked Data
ClinVar Variation Id:
1101260
ClinVar RCV Id:
RCV001424114
dbSNP Id:
rs778912170
ExAC:
1:68895585 G / A
gnomAD v2:
1-68895585-G-A
gnomAD v4:
1-68429902-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429902G>A , CM000663.2:g.68429902G>A | GRCh38 |
| NC_000001.10:g.68895585G>A , CM000663.1:g.68895585G>A | GRCh37 |
| NC_000001.9:g.68668173G>A | NCBI36 |
| NG_008472.1:g.25058C>T | |
| NG_008472.2:g.25058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1476C>T MANE Select | ENSP00000262340.5:p.Ser492= | |
| ENST00000262340.5:c.1476C>T | ENSP00000262340.5:p.Ser492= | |
| NM_000329.2:c.1476C>T | NP_000320.1:p.Ser492= | |
| XM_017002027.1:c.1200C>T | XP_016857516.1:p.Ser400= | |
| NM_000329.3:c.1476C>T MANE Select | NP_000320.1:p.Ser492= |