Linked Data
ClinVar Variation Id:
407278
ClinVar RCV Id:
RCV000467617
dbSNP Id:
rs763048415
ExAC:
6:38690967 G / A
gnomAD v2:
6-38690967-G-A
gnomAD v3:
6-38723191-G-A
gnomAD v4:
6-38723191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38723191G>A , CM000668.2:g.38723191G>A | GRCh38 |
| NC_000006.11:g.38690967G>A , CM000668.1:g.38690967G>A | GRCh37 |
| NC_000006.10:g.38798945G>A | NCBI36 |
| NG_041805.1:g.12851G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.382G>A MANE Select | ENSP00000333363.7:p.Glu128Lys | |
| ENST00000327475.10:c.382G>A | ENSP00000333363.7:p.Glu128Lys | |
| ENST00000359357.7:c.-185G>A | ENSP00000352312.3:n.-185G>A | |
| ENST00000373278.8:c.382G>A | ENSP00000362375.4:p.Glu128Lys | |
| ENST00000449981.6:c.382G>A | ENSP00000415331.2:p.Glu128Lys | |
| NM_001206927.1:c.382G>A | NP_001193856.1:p.Glu128Lys | |
| XM_011514318.1:c.382G>A | XP_011512620.1:p.Glu128Lys | |
| XM_011514319.1:c.382G>A | XP_011512621.1:p.Glu128Lys | |
| XM_011514320.1:c.382G>A | XP_011512622.1:p.Glu128Lys | |
| XM_011514322.1:c.382G>A | XP_011512624.1:p.Glu128Lys | |
| XR_926078.1:n.499G>A | ||
| NM_001371.3:c.-185G>A | NP_001362.2:n.-185G>A | |
| XM_011514318.2:c.382G>A | XP_011512620.1:p.Glu128Lys | |
| XM_011514319.2:c.382G>A | XP_011512621.1:p.Glu128Lys | |
| XM_011514320.2:c.382G>A | XP_011512622.1:p.Glu128Lys | |
| XM_017010325.1:c.382G>A | XP_016865814.1:p.Glu128Lys | |
| XM_017010326.1:c.382G>A | XP_016865815.1:p.Glu128Lys | |
| XM_017010327.1:c.382G>A | XP_016865816.1:p.Glu128Lys | |
| XR_001743188.1:n.503G>A | ||
| XR_926078.2:n.502G>A | ||
| NM_001206927.2:c.382G>A MANE Select | NP_001193856.1:p.Glu128Lys | |
| NM_001371.4:c.-185G>A | NP_001362.2:n.-185G>A |