Linked Data
ClinVar Variation Id:
2439015
ClinVar RCV Id:
RCV003141350
dbSNP Id:
rs374751715
ExAC:
X:63412094 C / T
gnomAD v2:
X-63412094-C-T
gnomAD v3:
X-64192214-C-T
gnomAD v4:
X-64192214-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192214C>T , CM000685.2:g.64192214C>T | GRCh38 |
| NC_000023.10:g.63412094C>T , CM000685.1:g.63412094C>T | GRCh37 |
| NC_000023.9:g.63328819C>T | NCBI36 |
| NG_021345.1:g.18531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1073G>A MANE Select | ENSP00000364003.4:p.Arg358Gln | |
| ENST00000330258.3:c.1073G>A | ENSP00000329117.3:p.Arg358Gln | |
| ENST00000374869.7:c.1073G>A | ENSP00000364003.3:p.Arg358Gln | |
| NM_152424.3:c.1073G>A | NP_689637.3:p.Arg358Gln | |
| XM_011530858.1:c.1073G>A | XP_011529160.1:p.Arg358Gln | |
| NM_152424.4:c.1073G>A MANE Select | NP_689637.3:p.Arg358Gln |