Linked Data
ClinVar Variation Id:
3005428
ClinVar RCV Id:
RCV003868555
MyVariant Identifiers:
chr3:g.172166075C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448285C>T , CM000665.2:g.172448285C>T | GRCh38 |
| NC_000003.11:g.172166075C>T , CM000665.1:g.172166075C>T | GRCh37 |
| NC_000003.10:g.173648769C>T | NCBI36 |
| NG_021159.1:g.5172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.129G>A MANE Select | ENSP00000241256.2:p.Leu43= | |
| ENST00000241256.2:c.129G>A | ENSP00000241256.2:p.Leu43= | |
| ENST00000427970.1:c.129G>A | ENSP00000395344.1:p.Leu43= | |
| NM_004122.2:c.129G>A | NP_004113.1:p.Leu43= | |
| NM_198407.2:c.129G>A MANE Select | NP_940799.1:p.Leu43= |