Linked Data
ClinVar Variation Id:
658864
ClinVar RCV Id:
RCV000815768
dbSNP Id:
rs1603050776
gnomAD v4:
X-47574762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574762C>T , CM000685.2:g.47574762C>T | GRCh38 |
| NC_000023.10:g.47434161C>T , CM000685.1:g.47434161C>T | GRCh37 |
| NC_000023.9:g.47319105C>T | NCBI36 |
| NG_008437.1:g.50096G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1319G>A MANE Select | ENSP00000295987.7:p.Gly440Glu | |
| ENST00000340666.5:c.1319G>A | ENSP00000343206.4:p.Gly440Glu | |
| ENST00000295987.11:c.1319G>A | ENSP00000295987.7:p.Gly440Glu | |
| ENST00000340666.4:c.1319G>A | ENSP00000343206.4:p.Gly440Glu | |
| NM_006950.3:c.1319G>A MANE Select | NP_008881.2:p.Gly440Glu | |
| NM_133499.2:c.1319G>A | NP_598006.1:p.Gly440Glu |