Linked Data
ClinVar Variation Id:
2031072
ClinVar RCV Id:
RCV002872176
MyVariant Identifiers:
chr14:g.24730932G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261726G>C , CM000676.2:g.24261726G>C | GRCh38 |
| NC_000014.8:g.24730932G>C , CM000676.1:g.24730932G>C | GRCh37 |
| NC_000014.7:g.23800772G>C | NCBI36 |
| NG_007150.1:g.6441C>G | |
| NG_007150.2:g.6441C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.477C>G MANE Select | ENSP00000206765.6:p.Ser159= | |
| ENST00000206765.10:c.477C>G | ENSP00000206765.6:p.Ser159= | |
| ENST00000544573.5:c.-29+401C>G | ENSP00000439446.1:n.-29+401C>G | |
| NM_000359.2:c.477C>G | NP_000350.1:p.Ser159= | |
| NM_000359.3:c.477C>G MANE Select | NP_000350.1:p.Ser159= |