Linked Data
ClinVar Variation Id:
2916934
ClinVar RCV Id:
RCV003625047
dbSNP Id:
rs782005255
ExAC:
X:152959722 T / C
gnomAD v2:
X-152959722-T-C
gnomAD v4:
X-153694267-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694267T>C , CM000685.2:g.153694267T>C | GRCh38 |
| NC_000023.10:g.152959722T>C , CM000685.1:g.152959722T>C | GRCh37 |
| NC_000023.9:g.152612916T>C | NCBI36 |
| NG_012016.1:g.10971T>C | |
| NG_012016.2:g.10971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1392T>C MANE Select | ENSP00000253122.5:p.Asp464= | |
| ENST00000253122.9:c.1392T>C | ENSP00000253122.5:p.Asp464= | |
| ENST00000413787.1:c.321T>C | ENSP00000400463.1:p.Asp107= | |
| ENST00000430077.6:c.1047T>C | ENSP00000403041.2:p.Asp349= | |
| ENST00000442457.1:c.446T>C | ||
| ENST00000485324.1:n.1537T>C | ||
| NM_001142805.1:c.1362T>C | NP_001136277.1:p.Asp454= | |
| NM_001142806.1:c.1047T>C | NP_001136278.1:p.Asp349= | |
| NM_005629.3:c.1392T>C | NP_005620.1:p.Asp464= | |
| NM_005629.4:c.1392T>C MANE Select | NP_005620.1:p.Asp464= | |
| NM_001142805.2:c.1362T>C | NP_001136277.1:p.Asp454= |