Linked Data
ClinVar Variation Id:
758010
ClinVar RCV Id:
RCV001411356
dbSNP Id:
rs1591774566
MyVariant Identifiers:
chr12:g.14019077T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13866143T>A , CM000674.2:g.13866143T>A | GRCh38 |
| NC_000012.11:g.14019077T>A , CM000674.1:g.14019077T>A | GRCh37 |
| NC_000012.10:g.13910344T>A | NCBI36 |
| NG_031854.1:g.118946A>T | |
| NG_031854.2:g.120870A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.66A>T MANE Select | ENSP00000477455.1:p.Ser22= | |
| ENST00000630791.2:c.66A>T | ENSP00000486677.2:p.Ser22= | |
| ENST00000609686.3:c.66A>T | ENSP00000477455.1:p.Ser22= | |
| ENST00000627535.2:c.66A>T | ENSP00000486411.1:p.Ser22= | |
| ENST00000630791.1:c.66A>T | ENSP00000486677.1:p.Ser22= | |
| NM_000834.3:c.66A>T | NP_000825.2:p.Ser22= | |
| XM_011520628.1:c.66A>T | XP_011518930.1:p.Ser22= | |
| XM_011520629.1:c.66A>T | XP_011518931.1:p.Ser22= | |
| XM_011520630.1:c.66A>T | XP_011518932.1:p.Ser22= | |
| NM_000834.4:c.66A>T | NP_000825.2:p.Ser22= | |
| XM_011520628.2:c.66A>T | XP_011518930.1:p.Ser22= | |
| XM_011520629.2:c.66A>T | XP_011518931.1:p.Ser22= | |
| XM_017019219.2:c.66A>T | XP_016874708.1:p.Ser22= | |
| NM_000834.5:c.66A>T MANE Select | NP_000825.2:p.Ser22= |