Linked Data
ClinVar Variation Id:
53823
dbSNP Id:
rs397508617
ExAC:
7:117282628 C / T
gnomAD v2:
7-117282628-C-T
gnomAD v3:
7-117642574-C-T
gnomAD v4:
7-117642574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642574C>T , CM000669.2:g.117642574C>T | GRCh38 |
| NC_000007.13:g.117282628C>T , CM000669.1:g.117282628C>T | GRCh37 |
| NC_000007.12:g.117069864C>T | NCBI36 |
| NG_016465.4:g.181791C>T , LRG_663:g.181791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*63C>T | ENSP00000497673.2:n.*63C>T | |
| ENST00000647978.2:c.*3568C>T | ENSP00000497658.1:n.*3568C>T | |
| ENST00000649781.2:c.3671C>T | ENSP00000497203.1:p.Ala1224Val | |
| ENST00000685018.2:c.3854C>T | ENSP00000510194.2:p.Ala1285Val | |
| ENST00000687278.2:c.*507C>T | ENSP00000509593.2:n.*507C>T | |
| ENST00000699585.1:c.*63C>T | ENSP00000514456.1:n.*63C>T | |
| ENST00000699598.1:c.3854C>T | ENSP00000514467.1:p.Ala1285Val | |
| ENST00000699599.1:c.3854C>T | ENSP00000514468.1:p.Ala1285Val | |
| ENST00000699600.1:c.*515C>T | ENSP00000514469.1:n.*515C>T | |
| ENST00000699601.1:c.*2229C>T | ENSP00000514470.1:n.*2229C>T | |
| ENST00000699602.1:c.3848C>T | ENSP00000514471.1:p.Ala1283Val | |
| ENST00000699604.1:c.*3678C>T | ENSP00000514472.1:n.*3678C>T | |
| ENST00000699605.1:c.3428C>T | ENSP00000514473.1:p.Ala1143Val | |
| ENST00000685018.1:c.602C>T | ENSP00000510194.1:p.Ala201Val | |
| ENST00000687278.1:c.1641C>T | ENSP00000509593.1:n.1641C>T | |
| ENST00000689011.1:c.436C>T | ||
| ENST00000003084.11:c.3854C>T MANE Select | ENSP00000003084.6:p.Ala1285Val | |
| ENST00000647720.1:c.1304C>T | ||
| ENST00000649781.1:c.3671C>T | ENSP00000497203.1:p.Ala1224Val | |
| ENST00000003084.10:c.3854C>T | ENSP00000003084.6:p.Ala1285Val | |
| ENST00000426809.5:c.3764C>T | ENSP00000389119.1:p.Ala1255Val | |
| NM_000492.3:c.3854C>T , LRG_663t1:c.3854C>T | NP_000483.3:p.Ala1285Val | |
| XM_011515751.1:c.3944C>T | XP_011514053.1:p.Ala1315Val | |
| XM_011515752.1:c.3944C>T | XP_011514054.1:p.Ala1315Val | |
| XM_011515753.1:c.3611C>T | XP_011514055.1:p.Ala1204Val | |
| XM_011515754.1:c.3611C>T | XP_011514056.1:p.Ala1204Val | |
| NM_000492.4:c.3854C>T MANE Select | NP_000483.3:p.Ala1285Val |