Linked Data
ClinVar Variation Id:
2798418
ClinVar RCV Id:
RCV003639545
MyVariant Identifiers:
chrX:g.69176894C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69957044C>T , CM000685.2:g.69957044C>T | GRCh38 |
| NC_000023.10:g.69176894C>T , CM000685.1:g.69176894C>T | GRCh37 |
| NC_000023.9:g.69093619C>T | NCBI36 |
| NG_009809.1:g.345984C>T | |
| NG_009809.2:g.345978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.414C>T MANE Select | ENSP00000363680.4:p.Phe138= | |
| ENST00000374548.5:n.656C>T | ||
| ENST00000374552.8:c.414C>T | ENSP00000363680.4:p.Phe138= | |
| ENST00000374553.6:c.414C>T | ENSP00000363681.2:p.Phe138= | |
| ENST00000502251.5:n.707C>T | ||
| ENST00000503592.5:c.18C>T | ENSP00000423037.1:p.Phe6= | |
| ENST00000524573.5:c.414C>T | ENSP00000432585.1:p.Phe138= | |
| ENST00000533317.5:n.1029C>T | ||
| ENST00000616899.1:c.18C>T | ENSP00000481963.1:p.Phe6= | |
| NM_001005609.1:c.414C>T | NP_001005609.1:p.Phe138= | |
| NM_001005612.2:c.414C>T | NP_001005612.2:p.Phe138= | |
| NM_001399.4:c.414C>T | NP_001390.1:p.Phe138= | |
| XM_006724630.2:c.414C>T | XP_006724693.1:p.Phe138= | |
| XM_011530885.1:c.414C>T | XP_011529187.1:p.Phe138= | |
| XM_011530885.2:c.414C>T | XP_011529187.1:p.Phe138= | |
| XM_017029336.1:c.414C>T | XP_016884825.1:p.Phe138= | |
| NM_001399.5:c.414C>T MANE Select | NP_001390.1:p.Phe138= | |
| NM_001005609.2:c.414C>T | NP_001005609.1:p.Phe138= | |
| NM_001005612.3:c.414C>T | NP_001005612.2:p.Phe138= |