Linked Data
ClinVar Variation Id:
375504
ClinVar RCV Id:
RCV000416954
dbSNP Id:
rs62641229
PubMed:
PMID:17336976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18079939G>A , CM000684.2:g.18079939G>A | GRCh38 |
| NC_000022.10:g.18562705G>A , CM000684.1:g.18562705G>A | GRCh37 |
| NC_000022.9:g.16942705G>A | NCBI36 |
| NG_008339.1:g.7020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.296G>A MANE Select | ENSP00000382648.4:p.Trp99Ter | |
| ENST00000474897.6:c.296G>A | ENSP00000434235.2:p.Trp99Ter | |
| ENST00000329627.11:c.296G>A | ENSP00000331106.5:p.Trp99Ter | |
| ENST00000399744.7:c.296G>A | ENSP00000382648.3:p.Trp99Ter | |
| ENST00000428061.2:c.296G>A | ENSP00000412441.2:p.Trp99Ter | |
| ENST00000474897.5:c.296G>A | ENSP00000434235.1:p.Trp99Ter | |
| ENST00000610387.4:c.296G>A | ENSP00000482091.1:p.Trp99Ter | |
| NM_001127649.2:c.296G>A | NP_001121121.1:p.Trp99Ter | |
| NM_001199319.1:c.296G>A | NP_001186248.1:p.Trp99Ter | |
| NM_017929.5:c.296G>A | NP_060399.1:p.Trp99Ter | |
| NM_001127649.3:c.296G>A MANE Select | NP_001121121.1:p.Trp99Ter | |
| NM_001199319.2:c.296G>A | NP_001186248.1:p.Trp99Ter | |
| NM_017929.6:c.296G>A | NP_060399.1:p.Trp99Ter |