Linked Data
ClinVar Variation Id:
2750618
ClinVar RCV Id:
RCV003563547
dbSNP Id:
rs752836422
MyVariant Identifiers:
chr1:g.94487250G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021694G>T , CM000663.2:g.94021694G>T | GRCh38 |
| NC_000001.10:g.94487250G>T , CM000663.1:g.94487250G>T | GRCh37 |
| NC_000001.9:g.94259838G>T | NCBI36 |
| NG_009073.1:g.104456C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4794C>A MANE Select | ENSP00000359245.3:p.Ala1598= | |
| ENST00000370225.3:c.4794C>A | ENSP00000359245.3:p.Ala1598= | |
| ENST00000460514.1:n.288C>A | ||
| ENST00000536513.5:c.1170C>A | ENSP00000439707.2:p.Ala390= | |
| NM_000350.2:c.4794C>A | NP_000341.2:p.Ala1598= | |
| NM_000350.3:c.4794C>A MANE Select | NP_000341.2:p.Ala1598= |