Linked Data
ClinVar Variation Id:
2939795
ClinVar RCV Id:
RCV003794961
gnomAD v4:
1-68431375-T-C
MyVariant Identifiers:
chr1:g.68897058T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431375T>C , CM000663.2:g.68431375T>C | GRCh38 |
| NC_000001.10:g.68897058T>C , CM000663.1:g.68897058T>C | GRCh37 |
| NC_000001.9:g.68669646T>C | NCBI36 |
| NG_008472.1:g.23585A>G | |
| NG_008472.2:g.23585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1245A>G MANE Select | ENSP00000262340.5:p.Ala415= | |
| ENST00000262340.5:c.1245A>G | ENSP00000262340.5:p.Ala415= | |
| NM_000329.2:c.1245A>G | NP_000320.1:p.Ala415= | |
| XM_017002027.1:c.969A>G | XP_016857516.1:p.Ala323= | |
| NM_000329.3:c.1245A>G MANE Select | NP_000320.1:p.Ala415= |