Linked Data
ClinVar Variation Id:
128517
ClinVar RCV Id:
RCV000116487
dbSNP Id:
rs61736567
ExAC:
3:63981676 T / C
gnomAD v2:
3-63981676-T-C
gnomAD v3:
3-63996000-T-C
gnomAD v4:
3-63996000-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.63996000T>C , CM000665.2:g.63996000T>C | GRCh38 |
| NC_000003.11:g.63981676T>C , CM000665.1:g.63981676T>C | GRCh37 |
| NC_000003.10:g.63956716T>C | NCBI36 |
| NG_008227.1:g.136444T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522345.2:c.2178T>C | ENSP00000428067.2:p.Ser726= | |
| ENST00000674280.1:c.2178T>C MANE Select | ENSP00000501377.1:p.Ser726= | |
| ENST00000295900.10:c.2178T>C | ENSP00000295900.6:p.Ser726= | |
| ENST00000474112.5:n.2731T>C | ||
| ENST00000484332.1:c.1743T>C | ENSP00000428277.1:p.Ser581= | |
| ENST00000487717.5:c.2178T>C | ENSP00000420234.1:p.Ser726= | |
| ENST00000538065.5:c.2178T>C | ENSP00000439585.1:p.Ser726= | |
| NM_000333.3:c.2178T>C | NP_000324.1:p.Ser726= | |
| NM_001128149.2:c.1743T>C | NP_001121621.2:p.Ser581= | |
| NM_001177387.1:c.2178T>C | NP_001170858.1:p.Ser726= | |
| NM_000333.4:c.2178T>C | NP_000324.1:p.Ser726= | |
| NM_001128149.3:c.1743T>C | NP_001121621.2:p.Ser581= | |
| NM_001377405.1:c.2178T>C MANE Select | NP_001364334.1:p.Ser726= | |
| NM_001377406.1:c.2178T>C | NP_001364335.1:p.Ser726= |