Linked Data
ClinVar Variation Id:
2841178
ClinVar RCV Id:
RCV003757657
MyVariant Identifiers:
chr1:g.245027175G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863873G>T , CM000663.2:g.244863873G>T | GRCh38 |
| NC_000001.10:g.245027175G>T , CM000663.1:g.245027175G>T | GRCh37 |
| NC_000001.9:g.243093798G>T | NCBI36 |
| NG_042184.1:g.5653C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.113C>A | ||
| ENST00000283179.14:c.435C>A | ENSP00000283179.10:p.Leu145= | |
| ENST00000444376.7:c.435C>A | ENSP00000393151.2:p.Leu145= | |
| ENST00000476241.2:n.620C>A | ||
| ENST00000638475.1:c.219C>A | ENSP00000491305.1:p.Leu73= | |
| ENST00000638952.1:n.666C>A | ||
| ENST00000640218.2:c.435C>A MANE Select | ENSP00000491215.1:p.Leu145= | |
| ENST00000640306.1:c.435C>A | ENSP00000491685.1:p.Leu145= | |
| ENST00000640440.1:c.135C>A | ENSP00000491263.1:p.Leu45= | |
| ENST00000649899.1:n.659C>A | ||
| ENST00000283179.13:c.435C>A | ENSP00000283179.9:p.Leu145= | |
| ENST00000444376.6:c.435C>A | ENSP00000393151.2:p.Leu145= | |
| ENST00000476241.1:n.619C>A | ||
| NM_004501.3:c.435C>A | NP_004492.2:p.Leu145= | |
| NM_031844.2:c.435C>A | NP_114032.2:p.Leu145= | |
| NM_031844.3:c.435C>A MANE Select | NP_114032.2:p.Leu145= |