Linked Data
ClinVar Variation Id:
1973034
ClinVar RCV Id:
RCV002730970
dbSNP Id:
rs1557193900
gnomAD v2:
X-49851012-T-C
gnomAD v4:
X-50086355-T-C
MyVariant Identifiers:
chrX:g.49851012T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50086355T>C , CM000685.2:g.50086355T>C | GRCh38 |
| NC_000023.10:g.49851012T>C , CM000685.1:g.49851012T>C | GRCh37 |
| NC_000023.9:g.49737752T>C | NCBI36 |
| NG_007159.3:g.168740T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376091.8:c.1042T>C MANE Select | ENSP00000365259.3:p.Leu348= | |
| ENST00000642383.1:c.292T>C | ENSP00000496353.1:p.Leu98= | |
| ENST00000642885.1:c.832T>C | ENSP00000496632.1:p.Leu278= | |
| ENST00000643129.1:c.1329T>C | ||
| ENST00000646398.1:c.*217T>C | ENSP00000495122.1:n.*217T>C | |
| ENST00000307367.2:c.832T>C | ENSP00000304257.2:p.Leu278= | |
| ENST00000376088.7:c.1042T>C | ENSP00000365256.3:p.Leu348= | |
| ENST00000376091.7:c.1042T>C | ENSP00000365259.3:p.Leu348= | |
| ENST00000376108.7:c.832T>C | ENSP00000365276.3:p.Leu278= | |
| NM_000084.4:c.832T>C | NP_000075.1:p.Leu278= | |
| NM_001127898.3:c.1042T>C | NP_001121370.1:p.Leu348= | |
| NM_001127899.3:c.1042T>C | NP_001121371.1:p.Leu348= | |
| NM_001282163.1:c.892T>C | NP_001269092.1:p.Leu298= | |
| XM_011543888.1:c.1042T>C | XP_011542190.1:p.Leu348= | |
| XM_011543889.1:c.832T>C | XP_011542191.1:p.Leu278= | |
| XM_017029257.1:c.1054T>C | XP_016884746.1:p.Leu352= | |
| XM_017029258.1:c.1054T>C | XP_016884747.1:p.Leu352= | |
| NM_001127898.4:c.1042T>C MANE Select | NP_001121370.1:p.Leu348= | |
| NM_000084.5:c.832T>C | NP_000075.1:p.Leu278= | |
| NM_001127899.4:c.1042T>C | NP_001121371.1:p.Leu348= | |
| NM_001282163.2:c.892T>C | NP_001269092.1:p.Leu298= |