Linked Data
ClinVar Variation Id:
7703
ClinVar RCV Id:
RCV000008142
dbSNP Id:
rs104893661
PubMed:
PMID:10332040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61032028G>A , CM000664.2:g.61032028G>A | GRCh38 |
| NC_000002.11:g.61259163G>A , CM000664.1:g.61259163G>A | GRCh37 |
| NC_000002.10:g.61112667G>A | NCBI36 |
| NG_008665.1:g.19352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.702G>A MANE Select | ENSP00000295030.4:p.Trp234Ter | |
| ENST00000295030.5:c.702G>A | ENSP00000295030.4:p.Trp234Ter | |
| NM_002618.3:c.702G>A | NP_002609.1:p.Trp234Ter | |
| XM_011532904.1:c.585G>A | XP_011531206.1:p.Trp195Ter | |
| NM_002618.4:c.702G>A MANE Select | NP_002609.1:p.Trp234Ter |