Linked Data
ClinVar Variation Id:
456637
ClinVar RCV Id:
RCV002248761
dbSNP Id:
rs1056836
gnomAD v3:
2-38071060-G-C
gnomAD v4:
2-38071060-G-C
MyVariant Identifiers:
chr2:g.38071060G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071060G>C , CM000664.2:g.38071060G>C | GRCh38 |
| NG_008386.2:g.10042C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490576.2:c.1294C>G | ENSP00000478839.2:p.Leu432Val | |
| ENST00000610745.5:c.1294C>G MANE Select | ENSP00000478561.1:p.Leu432Val | |
| ENST00000492443.1:n.672C>G | ||
| ENST00000494864.1:c.181C>G | ENSP00000479876.1:p.Leu61Val | |
| ENST00000610745.4:c.1294C>G | ENSP00000478561.1:p.Leu432Val | |
| ENST00000614273.1:c.1294C>G | ENSP00000483678.1:p.Leu432Val | |
| NM_000104.3:c.1294C>G | NP_000095.2:p.Leu432Val | |
| NM_000104.4:c.1294C>G MANE Select | NP_000095.2:p.Leu432Val |