Linked Data
ClinVar Variation Id:
161528
ClinVar RCV Id:
RCV000149063
dbSNP Id:
rs193920914
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40955384G>A , CM000677.2:g.40955384G>A | GRCh38 |
| NC_000015.9:g.41247582G>A , CM000677.1:g.41247582G>A | GRCh37 |
| NC_000015.8:g.39034874G>A | NCBI36 |
| NG_051562.1:g.6947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444189.7:c.279G>A | ENSP00000395466.3:p.Trp93Ter | |
| ENST00000617768.5:c.279G>A MANE Select | ENSP00000484644.2:p.Trp93Ter | |
| ENST00000444189.6:c.405G>A | ENSP00000395466.2:p.Trp135Ter | |
| ENST00000446533.7:c.405G>A | ENSP00000398105.3:p.Trp135Ter | |
| ENST00000487220.1:c.-277G>A | ENSP00000452707.1:n.-277G>A | |
| ENST00000617768.4:c.405G>A | ENSP00000484644.1:p.Trp135Ter | |
| ENST00000617961.1:c.279G>A | ENSP00000481816.1:p.Trp93Ter | |
| NM_001142776.1:c.405G>A | NP_001136248.1:p.Trp135Ter | |
| NM_024111.3:c.405G>A | NP_077016.2:p.Trp135Ter | |
| NM_001142776.3:c.279G>A | NP_001136248.2:p.Trp93Ter | |
| NM_024111.5:c.279G>A | NP_077016.3:p.Trp93Ter | |
| XM_024450045.1:c.405G>A | XP_024305813.1:p.Trp135Ter | |
| XM_024450046.1:c.405G>A | XP_024305814.1:p.Trp135Ter | |
| XM_024450047.1:c.405G>A | XP_024305815.1:p.Trp135Ter | |
| NM_024111.6:c.279G>A MANE Select | NP_077016.3:p.Trp93Ter | |
| NM_001142776.4:c.279G>A | NP_001136248.2:p.Trp93Ter |