Linked Data
ClinVar Variation Id:
224120
ClinVar RCV Id:
RCV001582717
dbSNP Id:
rs189437004
ExAC:
X:122459948 G / A
gnomAD v2:
X-122459948-G-A
gnomAD v3:
X-123326097-G-A
gnomAD v4:
X-123326097-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123326097G>A , CM000685.2:g.123326097G>A | GRCh38 |
| NC_000023.10:g.122459948G>A , CM000685.1:g.122459948G>A | GRCh37 |
| NC_000023.9:g.122287629G>A | NCBI36 |
| NG_009377.2:g.146855G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620443.2:c.580G>A MANE Select | ENSP00000478489.1:p.Gly194Arg | |
| ENST00000622768.5:c.580G>A MANE Plus Clinical | ENSP00000481554.1:p.Gly194Arg | |
| ENST00000541091.5:c.580G>A | ENSP00000446440.2:p.Gly194Arg | |
| ENST00000620443.1:c.580G>A | ENSP00000478489.1:p.Gly194Arg | |
| ENST00000620581.4:c.580G>A | ENSP00000481875.1:p.Gly194Arg | |
| ENST00000622768.4:c.580G>A | ENSP00000481554.1:p.Gly194Arg | |
| NM_000828.4:c.580G>A | NP_000819.3:p.Gly194Arg | |
| NM_007325.4:c.580G>A | NP_015564.4:p.Gly194Arg | |
| NM_007325.5:c.580G>A MANE Select | NP_015564.5:p.Gly194Arg | |
| NM_000828.5:c.580G>A MANE Plus Clinical | NP_000819.4:p.Gly194Arg |