Linked Data
ClinVar Variation Id:
2941778
ClinVar RCV Id:
RCV003802800
MyVariant Identifiers:
chrX:g.48546706A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688317A>C , CM000685.2:g.48688317A>C | GRCh38 |
| NC_000023.10:g.48546706A>C , CM000685.1:g.48546706A>C | GRCh37 |
| NC_000023.9:g.48431650A>C | NCBI36 |
| NG_007877.1:g.9521A>C , LRG_125:g.9521A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.39A>C | ||
| ENST00000483750.6:n.1031A>C | ||
| ENST00000698625.1:c.795A>C | ENSP00000513844.1:p.Pro265= | |
| ENST00000698626.1:c.795A>C | ENSP00000513845.1:p.Pro265= | |
| ENST00000698635.1:c.795A>C | ENSP00000513850.1:p.Pro265= | |
| ENST00000376701.5:c.795A>C MANE Select | ENSP00000365891.4:p.Pro265= | |
| ENST00000376701.4:c.795A>C | ENSP00000365891.4:p.Pro265= | |
| ENST00000474174.1:n.39A>C | ||
| NM_000377.2:c.795A>C , LRG_125t1:c.795A>C | NP_000368.1:p.Pro265= | |
| XM_011543977.1:c.795A>C | XP_011542279.1:p.Pro265= | |
| XM_011543977.2:c.795A>C | XP_011542279.1:p.Pro265= | |
| XM_017029786.1:c.795A>C | XP_016885275.1:p.Pro265= | |
| NM_000377.3:c.795A>C MANE Select | NP_000368.1:p.Pro265= |