Linked Data
ClinVar Variation Id:
1151170
ClinVar RCV Id:
RCV001492012
dbSNP Id:
rs764196171
gnomAD v3:
4-1002325-C-T
gnomAD v4:
4-1002325-C-T
MyVariant Identifiers:
chr4:g.996113C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002325C>T , CM000666.2:g.1002325C>T | GRCh38 |
| NC_000004.11:g.996113C>T , CM000666.1:g.996113C>T | GRCh37 |
| NC_000004.10:g.986113C>T | NCBI36 |
| NG_008103.1:g.20329C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.1029C>T | ENSP00000247933.4:p.Tyr343= | |
| ENST00000514224.2:c.1029C>T MANE Select | ENSP00000425081.2:p.Tyr343= | |
| ENST00000652070.1:n.1085C>T | ||
| ENST00000247933.8:c.1029C>T | ENSP00000247933.4:p.Tyr343= | |
| ENST00000514224.1:c.633C>T | ENSP00000425081.1:p.Tyr211= | |
| ENST00000514698.5:n.1136C>T | ||
| NM_000203.4:c.1029C>T | NP_000194.2:p.Tyr343= | |
| NR_110313.1:n.1117C>T | ||
| XM_006713882.2:c.633C>T | XP_006713945.1:p.Tyr211= | |
| XM_011513459.1:c.1095C>T | XP_011511761.1:p.Tyr365= | |
| XM_011513460.1:c.888C>T | XP_011511762.1:p.Tyr296= | |
| XM_011513461.1:c.822C>T | XP_011511763.1:p.Tyr274= | |
| XM_011513462.1:c.741C>T | XP_011511764.1:p.Tyr247= | |
| XM_011513463.1:c.741C>T | XP_011511765.1:p.Tyr247= | |
| XR_924947.1:n.1098C>T | ||
| NM_000203.5:c.1029C>T MANE Select | NP_000194.2:p.Tyr343= | |
| NM_001363576.1:c.633C>T | NP_001350505.1:p.Tyr211= | |
| XM_011513461.2:c.822C>T | XP_011511763.1:p.Tyr274= | |
| XM_017008163.1:c.69C>T | XP_016863652.1:p.Tyr23= |