Linked Data
ClinVar Variation Id:
8151
ClinVar RCV Id:
RCV000008628
dbSNP Id:
rs121909306
gnomAD v3:
12-57029584-A-G
gnomAD v4:
12-57029584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57029584A>G , CM000674.2:g.57029584A>G | GRCh38 |
| NC_000012.11:g.57423368A>G , CM000674.1:g.57423368A>G | GRCh37 |
| NC_000012.10:g.55709635A>G | NCBI36 |
| NG_012104.1:g.25526T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300119.8:c.2728T>C MANE Select | ENSP00000300119.3:p.Ser910Pro | |
| ENST00000300119.7:c.2728T>C | ENSP00000300119.3:p.Ser910Pro | |
| ENST00000442789.6:c.2728T>C | ENSP00000393392.2:p.Ser910Pro | |
| ENST00000477864.1:n.291T>C | ||
| ENST00000554234.5:c.*173T>C | ENSP00000451033.1:n.*173T>C | |
| NM_001256041.1:c.2728T>C | NP_001242970.1:p.Ser910Pro | |
| NM_005379.3:c.2728T>C | NP_005370.1:p.Ser910Pro | |
| NM_005379.4:c.2728T>C MANE Select | NP_005370.1:p.Ser910Pro | |
| NM_001256041.2:c.2728T>C | NP_001242970.1:p.Ser910Pro |