Linked Data
ClinVar Variation Id:
238655
dbSNP Id:
rs142863013
ExAC:
6:38702364 G / A
gnomAD v2:
6-38702364-G-A
gnomAD v3:
6-38734588-G-A
gnomAD v4:
6-38734588-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38734588G>A , CM000668.2:g.38734588G>A | GRCh38 |
| NC_000006.11:g.38702364G>A , CM000668.1:g.38702364G>A | GRCh37 |
| NC_000006.10:g.38810342G>A | NCBI36 |
| NG_041805.1:g.24248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.725G>A MANE Select | ENSP00000333363.7:p.Arg242His | |
| ENST00000327475.10:c.725G>A | ENSP00000333363.7:p.Arg242His | |
| ENST00000359357.7:c.74G>A | ENSP00000352312.3:p.Arg25His | |
| ENST00000449981.6:c.725G>A | ENSP00000415331.2:p.Arg242His | |
| NM_001206927.1:c.725G>A | NP_001193856.1:p.Arg242His | |
| XM_011514318.1:c.725G>A | XP_011512620.1:p.Arg242His | |
| XM_011514319.1:c.725G>A | XP_011512621.1:p.Arg242His | |
| XM_011514320.1:c.526-2479G>A | XP_011512622.1:n.526-2479G>A | |
| XM_011514321.1:c.74G>A | XP_011512623.1:p.Arg25His | |
| XM_011514322.1:c.725G>A | XP_011512624.1:p.Arg242His | |
| XR_926078.1:n.842G>A | ||
| NM_001371.3:c.74G>A | NP_001362.2:p.Arg25His | |
| XM_011514318.2:c.725G>A | XP_011512620.1:p.Arg242His | |
| XM_011514319.2:c.725G>A | XP_011512621.1:p.Arg242His | |
| XM_011514320.2:c.526-2479G>A | XP_011512622.1:n.526-2479G>A | |
| XM_017010325.1:c.725G>A | XP_016865814.1:p.Arg242His | |
| XM_017010326.1:c.725G>A | XP_016865815.1:p.Arg242His | |
| XM_017010327.1:c.725G>A | XP_016865816.1:p.Arg242His | |
| XR_001743188.1:n.846G>A | ||
| XR_926078.2:n.845G>A | ||
| NM_001206927.2:c.725G>A MANE Select | NP_001193856.1:p.Arg242His | |
| NM_001371.4:c.74G>A | NP_001362.2:p.Arg25His |