Linked Data
ClinVar Variation Id:
283362
dbSNP Id:
rs138826105
ExAC:
4:997844 C / T
gnomAD v2:
4-997844-C-T
gnomAD v3:
4-1004056-C-T
gnomAD v4:
4-1004056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004056C>T , CM000666.2:g.1004056C>T | GRCh38 |
| NC_000004.11:g.997844C>T , CM000666.1:g.997844C>T | GRCh37 |
| NC_000004.10:g.987844C>T | NCBI36 |
| NG_008103.1:g.22060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1772C>T | ENSP00000247933.4:p.Ala591Val | |
| ENST00000514224.2:c.1772C>T MANE Select | ENSP00000425081.2:p.Ala591Val | |
| ENST00000652070.1:n.1828C>T | ||
| ENST00000247933.8:c.1772C>T | ENSP00000247933.4:p.Ala591Val | |
| ENST00000514224.1:c.1376C>T | ENSP00000425081.1:p.Ala459Val | |
| ENST00000514698.5:n.1883C>T | ||
| NM_000203.4:c.1772C>T | NP_000194.2:p.Ala591Val | |
| NR_110313.1:n.1864C>T | ||
| XM_006713882.2:c.1376C>T | XP_006713945.1:p.Ala459Val | |
| XM_011513459.1:c.1838C>T | XP_011511761.1:p.Ala613Val | |
| XM_011513460.1:c.1631C>T | XP_011511762.1:p.Ala544Val | |
| XM_011513461.1:c.1565C>T | XP_011511763.1:p.Ala522Val | |
| XM_011513462.1:c.1484C>T | XP_011511764.1:p.Ala495Val | |
| XM_011513463.1:c.1484C>T | XP_011511765.1:p.Ala495Val | |
| XR_924947.1:n.2032C>T | ||
| NM_000203.5:c.1772C>T MANE Select | NP_000194.2:p.Ala591Val | |
| NM_001363576.1:c.1376C>T | NP_001350505.1:p.Ala459Val | |
| XM_011513461.2:c.1565C>T | XP_011511763.1:p.Ala522Val | |
| XM_017008163.1:c.812C>T | XP_016863652.1:p.Ala271Val |