Linked Data
ClinVar Variation Id:
525258
dbSNP Id:
rs776744908
ExAC:
6:38690727 T / C
gnomAD v2:
6-38690727-T-C
gnomAD v3:
6-38722951-T-C
gnomAD v4:
6-38722951-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38722951T>C , CM000668.2:g.38722951T>C | GRCh38 |
| NC_000006.11:g.38690727T>C , CM000668.1:g.38690727T>C | GRCh37 |
| NC_000006.10:g.38798705T>C | NCBI36 |
| NG_041805.1:g.12611T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.142T>C MANE Select | ENSP00000333363.7:p.Ser48Pro | |
| ENST00000327475.10:c.142T>C | ENSP00000333363.7:p.Ser48Pro | |
| ENST00000373278.8:c.142T>C | ENSP00000362375.4:p.Ser48Pro | |
| ENST00000449981.6:c.142T>C | ENSP00000415331.2:p.Ser48Pro | |
| NM_001206927.1:c.142T>C | NP_001193856.1:p.Ser48Pro | |
| XM_011514318.1:c.142T>C | XP_011512620.1:p.Ser48Pro | |
| XM_011514319.1:c.142T>C | XP_011512621.1:p.Ser48Pro | |
| XM_011514320.1:c.142T>C | XP_011512622.1:p.Ser48Pro | |
| XM_011514322.1:c.142T>C | XP_011512624.1:p.Ser48Pro | |
| XR_926078.1:n.259T>C | ||
| NM_001371.3:c.-425T>C | NP_001362.2:n.-425T>C | |
| XM_011514318.2:c.142T>C | XP_011512620.1:p.Ser48Pro | |
| XM_011514319.2:c.142T>C | XP_011512621.1:p.Ser48Pro | |
| XM_011514320.2:c.142T>C | XP_011512622.1:p.Ser48Pro | |
| XM_017010325.1:c.142T>C | XP_016865814.1:p.Ser48Pro | |
| XM_017010326.1:c.142T>C | XP_016865815.1:p.Ser48Pro | |
| XM_017010327.1:c.142T>C | XP_016865816.1:p.Ser48Pro | |
| XR_001743188.1:n.263T>C | ||
| XR_926078.2:n.262T>C | ||
| NM_001206927.2:c.142T>C MANE Select | NP_001193856.1:p.Ser48Pro | |
| NM_001371.4:c.-425T>C | NP_001362.2:n.-425T>C |