Linked Data
ClinVar Variation Id:
424197
ClinVar RCV Id:
RCV000480003
dbSNP Id:
rs1064796854
gnomAD v4:
X-41229398-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41229398C>T , CM000685.2:g.41229398C>T | GRCh38 |
| NC_000023.10:g.41088651C>T , CM000685.1:g.41088651C>T | GRCh37 |
| NC_000023.9:g.40973595C>T | NCBI36 |
| NG_012547.1:g.148764C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703986.1:c.7222C>T | ENSP00000515603.1:p.Gln2408Ter | |
| ENST00000703987.1:c.7222C>T | ENSP00000515604.1:p.Gln2408Ter | |
| ENST00000704649.1:c.3685-2989C>T | ENSP00000515974.1:n.3685-2989C>T | |
| ENST00000704650.1:c.7207C>T | ENSP00000515975.1:p.Gln2403Ter | |
| ENST00000704651.1:c.7054C>T | ENSP00000515976.1:p.Gln2352Ter | |
| ENST00000704652.1:c.6306C>T | ||
| ENST00000704654.1:c.4086C>T | ||
| ENST00000704655.1:c.3350C>T | ENSP00000515980.1:n.3350C>T | |
| ENST00000704656.1:c.2658C>T | ENSP00000515981.1:n.2658C>T | |
| ENST00000324545.9:c.7207C>T | ENSP00000316357.6:p.Gln2403Ter | |
| ENST00000378308.7:c.7207C>T MANE Select | ENSP00000367558.2:p.Gln2403Ter | |
| ENST00000324545.8:c.7207C>T | ENSP00000316357.6:p.Gln2403Ter | |
| ENST00000378308.6:c.7207C>T | ENSP00000367558.2:p.Gln2403Ter | |
| ENST00000485180.1:n.416C>T | ||
| NM_001039590.2:c.7207C>T | NP_001034679.2:p.Gln2403Ter | |
| NM_001039591.2:c.7207C>T | NP_001034680.2:p.Gln2403Ter | |
| XM_005272675.3:c.7222C>T | XP_005272732.1:p.Gln2408Ter | |
| XM_005272676.3:c.7222C>T | XP_005272733.1:p.Gln2408Ter | |
| XM_005272675.4:c.7222C>T | XP_005272732.1:p.Gln2408Ter | |
| XM_005272676.4:c.7222C>T | XP_005272733.1:p.Gln2408Ter | |
| NM_001039591.3:c.7207C>T MANE Select | NP_001034680.2:p.Gln2403Ter | |
| NM_001039590.3:c.7207C>T | NP_001034679.2:p.Gln2403Ter |