Linked Data
ClinVar Variation Id:
391834
ClinVar RCV Id:
RCV000418908
dbSNP Id:
rs1057524255
gnomAD v2:
2-49195888-C-A
gnomAD v3:
2-48968749-C-A
gnomAD v4:
2-48968749-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48968749C>A , CM000664.2:g.48968749C>A | GRCh38 |
| NC_000002.11:g.49195888C>A , CM000664.1:g.49195888C>A | GRCh37 |
| NC_000002.10:g.49049392C>A | NCBI36 |
| NG_008146.1:g.190743G>T , LRG_536:g.190743G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.803G>T MANE Select | ENSP00000384708.2:p.Ser268Ile | |
| ENST00000304421.8:c.725G>T | ENSP00000306780.4:p.Ser242Ile | |
| ENST00000406846.6:c.803G>T | ENSP00000384708.2:p.Ser268Ile | |
| ENST00000454032.5:c.669-4783G>T | ENSP00000415504.1:n.669-4783G>T | |
| NM_000145.3:c.803G>T , LRG_536t1:c.803G>T | NP_000136.2:p.Ser268Ile | |
| NM_181446.2:c.725G>T | NP_852111.2:p.Ser242Ile | |
| XM_011532733.1:c.905G>T | XP_011531035.1:p.Ser302Ile | |
| XM_011532734.1:c.572G>T | XP_011531036.1:p.Ser191Ile | |
| XM_011532735.1:c.11G>T | XP_011531037.1:p.Ser4Ile | |
| XM_011532736.1:c.11G>T | XP_011531038.1:p.Ser4Ile | |
| XM_011532737.1:c.905G>T | XP_011531039.1:p.Ser302Ile | |
| XM_011532738.1:c.905G>T | XP_011531040.1:p.Ser302Ile | |
| XM_011532739.1:c.905G>T | XP_011531041.1:p.Ser302Ile | |
| XM_011532740.1:c.905G>T | XP_011531042.1:p.Ser302Ile | |
| XM_011532733.2:c.905G>T | XP_011531035.1:p.Ser302Ile | |
| XM_011532734.2:c.572G>T | XP_011531036.1:p.Ser191Ile | |
| XM_011532735.2:c.11G>T | XP_011531037.1:p.Ser4Ile | |
| XM_011532736.2:c.11G>T | XP_011531038.1:p.Ser4Ile | |
| NM_000145.4:c.803G>T MANE Select | NP_000136.2:p.Ser268Ile | |
| NM_181446.3:c.725G>T | NP_852111.2:p.Ser242Ile |