Linked Data
ClinVar Variation Id:
98020
ClinVar RCV Id:
RCV000084301
dbSNP Id:
rs63750378
gnomAD v2:
14:73640302 G / A
gnomAD v3:
14:73173594 G / A
gnomAD v4:
14:73173594 G / A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73173594G>A , CM000676.2:g.73173594G>A | GRCh38 |
| NC_000014.8:g.73640302G>A , CM000676.1:g.73640302G>A | GRCh37 |
| NC_000014.7:g.72710055G>A | NCBI36 |
| NG_007386.2:g.42124G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324501.10:c.367G>A MANE Select | ENSP00000326366.5:p.Glu123Lys | |
| ENST00000324501.9:c.367G>A | ENSP00000326366.5:p.Glu123Lys | |
| ENST00000357710.8:c.355G>A | ENSP00000350342.4:p.Glu119Lys | |
| ENST00000394157.7:c.367G>A | ENSP00000377712.3:p.Glu123Lys | |
| ENST00000394164.5:c.355G>A | ENSP00000377719.1:p.Glu119Lys | |
| ENST00000406768.1:c.91G>A | ENSP00000385948.1:p.Glu31Lys | |
| ENST00000553719.5:c.355G>A | ENSP00000451674.1:p.Glu119Lys | |
| ENST00000553855.5:c.367G>A | ENSP00000452242.1:p.Glu123Lys | |
| ENST00000555254.5:c.367G>A | ENSP00000450652.1:p.Glu123Lys | |
| ENST00000555386.5:c.355G>A | ENSP00000450845.1:p.Glu119Lys | |
| ENST00000557356.5:c.355G>A | ENSP00000451498.1:p.Glu119Lys | |
| ENST00000557511.5:c.367G>A | ENSP00000451429.1:p.Glu123Lys | |
| ENST00000559361.5:c.*311G>A | ENSP00000454156.1:n.*311G>A | |
| NM_000021.3:c.367G>A | NP_000012.1:p.Glu123Lys | |
| NM_007318.2:c.355G>A | NP_015557.2:p.Glu119Lys | |
| XM_005267864.1:c.367G>A | XP_005267921.1:p.Glu123Lys | |
| XM_005267866.1:c.355G>A | XP_005267923.1:p.Glu119Lys | |
| XM_011536971.1:c.367G>A | XP_011535273.1:p.Glu123Lys | |
| XM_011536972.1:c.367G>A | XP_011535274.1:p.Glu123Lys | |
| XM_011536973.1:c.355G>A | XP_011535275.1:p.Glu119Lys | |
| XM_011536974.1:c.355G>A | XP_011535276.1:p.Glu119Lys | |
| XM_005267864.3:c.367G>A | XP_005267921.1:p.Glu123Lys | |
| XM_005267866.2:c.355G>A | XP_005267923.1:p.Glu119Lys | |
| XM_011536972.2:c.367G>A | XP_011535274.1:p.Glu123Lys | |
| XM_011536973.2:c.355G>A | XP_011535275.1:p.Glu119Lys | |
| XM_011536974.2:c.355G>A | XP_011535276.1:p.Glu119Lys | |
| NM_000021.4:c.367G>A MANE Select | NP_000012.1:p.Glu123Lys | |
| NM_007318.3:c.355G>A | NP_015557.2:p.Glu119Lys |