Linked Data
ClinVar Variation Id:
180184
ClinVar RCV Id:
RCV000157036
dbSNP Id:
rs730880027
PubMed:
PMID:25374358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219250479C>T , CM000664.2:g.219250479C>T | GRCh38 |
| NC_000002.11:g.220115201C>T , CM000664.1:g.220115201C>T | GRCh37 |
| NC_000002.10:g.219823445C>T | NCBI36 |
| NG_029913.1:g.8438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248437.9:c.1220G>A MANE Select | ENSP00000248437.4:p.Trp407Ter | |
| ENST00000248437.8:c.1220G>A | ENSP00000248437.4:p.Trp407Ter | |
| ENST00000392088.6:c.1175G>A | ENSP00000375938.2:p.Trp392Ter | |
| NM_001278552.1:c.1175G>A | NP_001265481.1:p.Trp392Ter | |
| NM_006000.2:c.1220G>A | NP_005991.1:p.Trp407Ter | |
| XM_005246832.1:c.1175G>A | XP_005246889.1:p.Trp392Ter | |
| XM_017004824.1:c.761G>A | XP_016860313.1:p.Trp254Ter | |
| NM_006000.3:c.1220G>A MANE Select | NP_005991.1:p.Trp407Ter | |
| NM_001278552.2:c.1175G>A | NP_001265481.1:p.Trp392Ter |