Linked Data
ClinVar Variation Id:
238648
ClinVar RCV Id:
RCV000227900
dbSNP Id:
rs754105184
ExAC:
6:38690632 C / T
gnomAD v2:
6-38690632-C-T
gnomAD v3:
6-38722856-C-T
gnomAD v4:
6-38722856-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38722856C>T , CM000668.2:g.38722856C>T | GRCh38 |
| NC_000006.11:g.38690632C>T , CM000668.1:g.38690632C>T | GRCh37 |
| NC_000006.10:g.38798610C>T | NCBI36 |
| NG_041805.1:g.12516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.47C>T MANE Select | ENSP00000333363.7:p.Ala16Val | |
| ENST00000327475.10:c.47C>T | ENSP00000333363.7:p.Ala16Val | |
| ENST00000373278.8:c.47C>T | ENSP00000362375.4:p.Ala16Val | |
| ENST00000449981.6:c.47C>T | ENSP00000415331.2:p.Ala16Val | |
| NM_001206927.1:c.47C>T | NP_001193856.1:p.Ala16Val | |
| XM_011514318.1:c.47C>T | XP_011512620.1:p.Ala16Val | |
| XM_011514319.1:c.47C>T | XP_011512621.1:p.Ala16Val | |
| XM_011514320.1:c.47C>T | XP_011512622.1:p.Ala16Val | |
| XM_011514322.1:c.47C>T | XP_011512624.1:p.Ala16Val | |
| XR_926078.1:n.164C>T | ||
| NM_001371.3:c.-520C>T | NP_001362.2:n.-520C>T | |
| XM_011514318.2:c.47C>T | XP_011512620.1:p.Ala16Val | |
| XM_011514319.2:c.47C>T | XP_011512621.1:p.Ala16Val | |
| XM_011514320.2:c.47C>T | XP_011512622.1:p.Ala16Val | |
| XM_017010325.1:c.47C>T | XP_016865814.1:p.Ala16Val | |
| XM_017010326.1:c.47C>T | XP_016865815.1:p.Ala16Val | |
| XM_017010327.1:c.47C>T | XP_016865816.1:p.Ala16Val | |
| XR_001743188.1:n.168C>T | ||
| XR_926078.2:n.167C>T | ||
| NM_001206927.2:c.47C>T MANE Select | NP_001193856.1:p.Ala16Val | |
| NM_001371.4:c.-520C>T | NP_001362.2:n.-520C>T |