Linked Data
ClinVar Variation Id:
8168
ClinVar RCV Id:
RCV000008646
dbSNP Id:
rs121909303
ExAC:
5:41842787 C / T
gnomAD v2:
5-41842787-C-T
gnomAD v3:
5-41842685-C-T
gnomAD v4:
5-41842685-C-T
PubMed:
PMID:10964512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41842685C>T , CM000667.2:g.41842685C>T | GRCh38 |
| NC_000005.9:g.41842787C>T , CM000667.1:g.41842787C>T | GRCh37 |
| NC_000005.8:g.41878544C>T | NCBI36 |
| NG_011823.1:g.33005G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000196371.10:c.661G>A MANE Select | ENSP00000196371.5:p.Val221Met | |
| ENST00000196371.9:c.661G>A | ENSP00000196371.5:p.Val221Met | |
| ENST00000509987.1:c.103G>A | ENSP00000425348.1:p.Val35Met | |
| ENST00000514723.1:n.73G>A | ||
| NM_000436.3:c.661G>A | NP_000427.1:p.Val221Met | |
| XR_427658.2:n.837G>A | ||
| NM_001364299.1:c.682G>A | NP_001351228.1:p.Val228Met | |
| NM_001364300.1:c.682G>A | NP_001351229.1:p.Val228Met | |
| NM_001364301.1:c.661G>A | NP_001351230.1:p.Val221Met | |
| NM_001364302.1:c.661G>A | NP_001351231.1:p.Val221Met | |
| NM_001364303.1:c.103G>A | NP_001351232.1:p.Val35Met | |
| NR_157114.1:n.728G>A | ||
| XR_001742081.2:n.838G>A | ||
| NM_000436.4:c.661G>A MANE Select | NP_000427.1:p.Val221Met | |
| NM_001364299.2:c.682G>A | NP_001351228.1:p.Val228Met | |
| NM_001364300.2:c.682G>A | NP_001351229.1:p.Val228Met | |
| NM_001364301.2:c.661G>A | NP_001351230.1:p.Val221Met | |
| NM_001364302.2:c.661G>A | NP_001351231.1:p.Val221Met | |
| NR_157114.2:n.728G>A | ||
| NM_001364303.2:c.103G>A | NP_001351232.1:p.Val35Met |