Linked Data
ClinVar Variation Id:
402161
ClinVar RCV Id:
RCV000454336
dbSNP Id:
rs1060499748
gnomAD v4:
X-23988262-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23988262C>T , CM000685.2:g.23988262C>T | GRCh38 |
| NC_000023.10:g.24006379C>T , CM000685.1:g.24006379C>T | GRCh37 |
| NC_000023.9:g.23916300C>T | NCBI36 |
| NG_012625.1:g.43925G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684871.1:c.1474G>A | ENSP00000509774.1:p.Val492Ile | |
| ENST00000685367.1:c.1474G>A | ENSP00000509439.1:p.Val492Ile | |
| ENST00000689334.1:c.1474G>A | ENSP00000508713.1:p.Val492Ile | |
| ENST00000692681.1:c.1474G>A | ENSP00000510696.1:p.Val492Ile | |
| ENST00000693269.1:c.1474G>A | ENSP00000509509.1:p.Val492Ile | |
| ENST00000328046.8:c.1474G>A MANE Select | ENSP00000332791.8:p.Val492Ile | |
| NM_030624.2:c.1474G>A | NP_085127.2:p.Val492Ile | |
| XM_006724518.1:c.1474G>A | XP_006724581.1:p.Val492Ile | |
| XM_024452454.1:c.1474G>A | XP_024308222.1:p.Val492Ile | |
| NM_030624.3:c.1474G>A MANE Select | NP_085127.2:p.Val492Ile |