Linked Data
ClinVar Variation Id:
1993260
ClinVar RCV Id:
RCV002814560
MyVariant Identifiers:
chr1:g.94526150G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060594G>A , CM000663.2:g.94060594G>A | GRCh38 |
| NC_000001.10:g.94526150G>A , CM000663.1:g.94526150G>A | GRCh37 |
| NC_000001.9:g.94298738G>A | NCBI36 |
| NG_009073.1:g.65556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2103C>T MANE Select | ENSP00000359245.3:p.Phe701= | |
| ENST00000649773.1:c.2103C>T | ENSP00000496882.1:p.Phe701= | |
| ENST00000370225.3:c.2103C>T | ENSP00000359245.3:p.Phe701= | |
| ENST00000472033.1:n.223C>T | ||
| ENST00000536513.5:c.-65+2580C>T | ENSP00000439707.2:n.-65+2580C>T | |
| NM_000350.2:c.2103C>T | NP_000341.2:p.Phe701= | |
| NM_000350.3:c.2103C>T MANE Select | NP_000341.2:p.Phe701= |