Linked Data
ClinVar Variation Id:
2939580
ClinVar RCV Id:
RCV003794746
dbSNP Id:
rs1400815962
gnomAD v4:
1-68431369-C-T
MyVariant Identifiers:
chr1:g.68897052C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431369C>T , CM000663.2:g.68431369C>T | GRCh38 |
| NC_000001.10:g.68897052C>T , CM000663.1:g.68897052C>T | GRCh37 |
| NC_000001.9:g.68669640C>T | NCBI36 |
| NG_008472.1:g.23591G>A | |
| NG_008472.2:g.23591G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1251G>A MANE Select | ENSP00000262340.5:p.Glu417= | |
| ENST00000262340.5:c.1251G>A | ENSP00000262340.5:p.Glu417= | |
| NM_000329.2:c.1251G>A | NP_000320.1:p.Glu417= | |
| XM_017002027.1:c.975G>A | XP_016857516.1:p.Glu325= | |
| NM_000329.3:c.1251G>A MANE Select | NP_000320.1:p.Glu417= |