Linked Data
ClinVar Variation Id:
10830
ClinVar RCV Id:
RCV000011577
dbSNP Id:
rs137853265
ExAC:
X:54494334 C / T
gnomAD v2:
X-54494334-C-T
gnomAD v3:
X-54467901-C-T
gnomAD v4:
X-54467901-C-T
PubMed:
PMID:15809997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54467901C>T , CM000685.2:g.54467901C>T | GRCh38 |
| NC_000023.10:g.54494334C>T , CM000685.1:g.54494334C>T | GRCh37 |
| NC_000023.9:g.54511059C>T | NCBI36 |
| NG_008054.1:g.33266G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375135.4:c.1223G>A MANE Select | ENSP00000364277.3:p.Arg408Gln | |
| ENST00000375135.3:c.1223G>A | ENSP00000364277.3:p.Arg408Gln | |
| NM_004463.2:c.1223G>A | NP_004454.2:p.Arg408Gln | |
| NM_004463.3:c.1223G>A MANE Select | NP_004454.2:p.Arg408Gln |