Linked Data
ClinVar Variation Id:
5318
ClinVar RCV Id:
RCV000005643
dbSNP Id:
rs137853154
gnomAD v4:
20-10413073-G-A
PubMed:
PMID:11567139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413073G>A , CM000682.2:g.10413073G>A | GRCh38 |
| NC_000020.10:g.10393721G>A , CM000682.1:g.10393721G>A | GRCh37 |
| NC_000020.9:g.10341721G>A | NCBI36 |
| NG_009109.1:g.26146C>T | |
| NG_009109.2:g.26146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.442C>T | ENSP00000498849.1:p.Gln148Ter | |
| ENST00000652676.1:n.459-373C>T | ||
| ENST00000347364.7:c.442C>T MANE Select | ENSP00000246062.4:p.Gln148Ter | |
| ENST00000399054.6:c.442C>T | ENSP00000382008.2:p.Gln148Ter | |
| NM_018848.3:c.442C>T | NP_061336.1:p.Gln148Ter | |
| NM_170784.2:c.442C>T | NP_740754.1:p.Gln148Ter | |
| NR_072977.1:n.364-4270C>T | ||
| NR_072977.2:n.347-4270C>T | ||
| NM_170784.3:c.442C>T MANE Select | NP_740754.1:p.Gln148Ter |