Linked Data
ClinVar Variation Id:
388812
ClinVar RCV Id:
RCV000431667
dbSNP Id:
rs1057523238
gnomAD v4:
17-8073167-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8073167C>A , CM000679.2:g.8073167C>A | GRCh38 |
| NC_000017.10:g.7976485C>A , CM000679.1:g.7976485C>A | GRCh37 |
| NC_000017.9:g.7917210C>A | NCBI36 |
| NG_007099.1:g.19537G>T | |
| NG_007099.2:g.19550G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1907G>T MANE Select | ENSP00000497784.1:p.Ser636Ile | |
| ENST00000649809.1:c.971G>T | ENSP00000496845.1:p.Ser324Ile | |
| ENST00000650441.1:n.330G>T | ||
| ENST00000319144.4:c.1907G>T | ENSP00000315167.4:p.Ser636Ile | |
| ENST00000577351.5:n.631G>T | ||
| NM_001139.2:c.1907G>T | NP_001130.1:p.Ser636Ile | |
| NM_001139.3:c.1907G>T MANE Select | NP_001130.1:p.Ser636Ile |