Linked Data
ClinVar Variation Id:
1140494
ClinVar RCV Id:
RCV001477570
dbSNP Id:
rs372948062
gnomAD v4:
4-1001701-C-T
MyVariant Identifiers:
chr4:g.995489C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001701C>T , CM000666.2:g.1001701C>T | GRCh38 |
| NC_000004.11:g.995489C>T , CM000666.1:g.995489C>T | GRCh37 |
| NC_000004.10:g.985489C>T | NCBI36 |
| NG_008103.1:g.19705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.612C>T | ENSP00000247933.4:p.Ala204= | |
| ENST00000514224.2:c.612C>T MANE Select | ENSP00000425081.2:p.Ala204= | |
| ENST00000652070.1:n.668C>T | ||
| ENST00000247933.8:c.612C>T | ENSP00000247933.4:p.Ala204= | |
| ENST00000502910.5:c.471C>T | ENSP00000422952.1:p.Ala157= | |
| ENST00000504568.5:c.572C>T | ||
| ENST00000509948.5:c.405C>T | ENSP00000424227.1:p.Ala135= | |
| ENST00000514192.5:c.429C>T | ENSP00000423685.1:p.Ala143= | |
| ENST00000514224.1:c.216C>T | ENSP00000425081.1:p.Ala72= | |
| ENST00000514698.5:n.512C>T | ||
| NM_000203.4:c.612C>T | NP_000194.2:p.Ala204= | |
| NR_110313.1:n.700C>T | ||
| XM_006713882.2:c.216C>T | XP_006713945.1:p.Ala72= | |
| XM_011513459.1:c.471C>T | XP_011511761.1:p.Ala157= | |
| XM_011513460.1:c.471C>T | XP_011511762.1:p.Ala157= | |
| XM_011513461.1:c.405C>T | XP_011511763.1:p.Ala135= | |
| XM_011513462.1:c.324C>T | XP_011511764.1:p.Ala108= | |
| XM_011513463.1:c.324C>T | XP_011511765.1:p.Ala108= | |
| XR_924947.1:n.681C>T | ||
| NM_000203.5:c.612C>T MANE Select | NP_000194.2:p.Ala204= | |
| NM_001363576.1:c.216C>T | NP_001350505.1:p.Ala72= | |
| XM_011513461.2:c.405C>T | XP_011511763.1:p.Ala135= | |
| XM_017008163.1:c.-349C>T | XP_016863652.1:n.-349C>T |