Linked Data
ClinVar Variation Id:
1565699
ClinVar RCV Id:
RCV002205447
dbSNP Id:
rs2148128710
MyVariant Identifiers:
chrX:g.153609115G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380755G>C , CM000685.2:g.154380755G>C | GRCh38 |
| NC_000023.10:g.153609115G>C , CM000685.1:g.153609115G>C | GRCh37 |
| NC_000023.9:g.153262309G>C | NCBI36 |
| NG_008677.1:g.11320G>C , LRG_745:g.11320G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.402G>C | ENSP00000507245.1:p.Val134= | |
| ENST00000682478.1:n.592G>C | ||
| ENST00000683576.1:n.592G>C | ||
| ENST00000683627.1:c.402G>C | ENSP00000507533.1:p.Val134= | |
| ENST00000684082.1:c.359G>C | ENSP00000508266.1:n.359G>C | |
| ENST00000684633.1:n.374G>C | ||
| ENST00000684678.1:c.398G>C | ENSP00000507059.1:n.398G>C | |
| ENST00000369842.9:c.402G>C MANE Select | ENSP00000358857.4:p.Val134= | |
| ENST00000369835.3:c.297G>C | ENSP00000358850.3:p.Val99= | |
| ENST00000369842.8:c.402G>C | ENSP00000358857.4:p.Val134= | |
| ENST00000428228.5:c.*307G>C | ENSP00000401081.1:n.*307G>C | |
| ENST00000468294.5:n.362G>C | ||
| ENST00000471965.1:n.191G>C | ||
| ENST00000485261.1:n.592G>C | ||
| ENST00000486738.5:n.760G>C | ||
| ENST00000492448.1:n.385G>C | ||
| NM_000117.2:c.402G>C , LRG_745t1:c.402G>C | NP_000108.1:p.Val134= | |
| XM_024452349.1:c.408G>C | XP_024308117.1:p.Val136= | |
| NM_000117.3:c.402G>C MANE Select | NP_000108.1:p.Val134= |