Linked Data
ClinVar Variation Id:
188648
ClinVar RCV Id:
RCV001170480
dbSNP Id:
rs786204385
gnomAD v4:
14-23413778-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23413778C>A , CM000676.2:g.23413778C>A | GRCh38 |
| NC_000014.8:g.23882987C>A , CM000676.1:g.23882987C>A | GRCh37 |
| NC_000014.7:g.22952827C>A | NCBI36 |
| NG_007884.1:g.26884G>T , LRG_384:g.26884G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5771G>T MANE Select | ENSP00000347507.3:p.Ser1924Ile | |
| ENST00000355349.3:c.5771G>T | ENSP00000347507.3:p.Ser1924Ile | |
| NM_000257.3:c.5771G>T | NP_000248.2:p.Ser1924Ile | |
| XM_017021340.1:c.5771G>T | XP_016876829.1:p.Ser1924Ile | |
| NM_000257.4:c.5771G>T MANE Select | NP_000248.2:p.Ser1924Ile |