Linked Data
ClinVar Variation Id:
2804481
ClinVar RCV Id:
RCV003684087
dbSNP Id:
rs760746152
gnomAD v2:
15-90319996-G-C
gnomAD v3:
15-89776765-G-C
gnomAD v4:
15-89776765-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776765G>C , CM000677.2:g.89776765G>C | GRCh38 |
| NC_000015.9:g.90319996G>C , CM000677.1:g.90319996G>C | GRCh37 |
| NC_000015.8:g.88121000G>C | NCBI36 |
| NG_008608.1:g.5408G>C | |
| NG_008608.2:g.21175G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.408G>C MANE Select | ENSP00000342392.3:p.Ser136= | |
| ENST00000341735.3:c.408G>C | ENSP00000342392.3:p.Ser136= | |
| ENST00000558723.1:n.39-1300G>C | ||
| ENST00000560219.2:c.31-1300G>C | ENSP00000452998.1:n.31-1300G>C | |
| NM_001039958.1:c.408G>C | NP_001035047.1:p.Ser136= | |
| NM_001039958.2:c.408G>C MANE Select | NP_001035047.1:p.Ser136= |