Linked Data
ClinVar Variation Id:
735112
ClinVar RCV Id:
RCV000910612
dbSNP Id:
rs200287443
ExAC:
X:49104175 C / T
gnomAD v2:
X-49104175-C-T
gnomAD v3:
X-49247714-C-T
gnomAD v4:
X-49247714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49247714C>T , CM000685.2:g.49247714C>T | GRCh38 |
| NC_000023.10:g.49104175C>T , CM000685.1:g.49104175C>T | GRCh37 |
| NC_000023.9:g.48991119C>T | NCBI36 |
| NG_021311.2:g.17250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376227.4:c.1038C>T MANE Select | ENSP00000365401.3:p.Arg346= | |
| ENST00000376227.3:c.1038C>T | ENSP00000365401.3:p.Arg346= | |
| NM_014008.4:c.1038C>T | NP_054727.1:p.Arg346= | |
| XM_005272599.2:c.1035C>T | XP_005272656.1:p.Arg345= | |
| XR_430506.1:n.1140C>T | ||
| XM_005272599.4:c.1035C>T | XP_005272656.1:p.Arg345= | |
| XR_430506.3:n.1153C>T | ||
| NM_014008.5:c.1038C>T MANE Select | NP_054727.1:p.Arg346= |