Linked Data
ClinVar Variation Id:
3028844
ClinVar RCV Id:
RCV003890709
dbSNP Id:
rs773589920
ExAC:
1:68897014 G / T
gnomAD v2:
1-68897014-G-T
gnomAD v3:
1-68431331-G-T
gnomAD v4:
1-68431331-G-T
COSMIC:
COSM6340581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431331G>T , CM000663.2:g.68431331G>T | GRCh38 |
| NC_000001.10:g.68897014G>T , CM000663.1:g.68897014G>T | GRCh37 |
| NC_000001.9:g.68669602G>T | NCBI36 |
| NG_008472.1:g.23629C>A | |
| NG_008472.2:g.23629C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1289C>A MANE Select | ENSP00000262340.5:p.Pro430His | |
| ENST00000262340.5:c.1289C>A | ENSP00000262340.5:p.Pro430His | |
| NM_000329.2:c.1289C>A | NP_000320.1:p.Pro430His | |
| XM_017002027.1:c.1013C>A | XP_016857516.1:p.Pro338His | |
| NM_000329.3:c.1289C>A MANE Select | NP_000320.1:p.Pro430His |