Linked Data
dbSNP Id:
rs1557182683
gnomAD v2:
X-153609452-T-C
gnomAD v4:
X-154381092-T-C
MyVariant Identifiers:
chrX:g.153609452T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154381092T>C , CM000685.2:g.154381092T>C | GRCh38 |
| NC_000023.10:g.153609452T>C , CM000685.1:g.153609452T>C | GRCh37 |
| NC_000023.9:g.153262646T>C | NCBI36 |
| NG_008677.1:g.11657T>C , LRG_745:g.11657T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.572+88T>C | ENSP00000507245.1:n.572+88T>C | |
| ENST00000682478.1:n.762+88T>C | ||
| ENST00000683576.1:n.850T>C | ||
| ENST00000683627.1:c.660T>C | ENSP00000507533.1:p.Asp220= | |
| ENST00000684082.1:c.617T>C | ENSP00000508266.1:n.617T>C | |
| ENST00000684633.1:n.632T>C | ||
| ENST00000684678.1:c.568+88T>C | ENSP00000507059.1:n.568+88T>C | |
| ENST00000369842.9:c.660T>C MANE Select | ENSP00000358857.4:p.Asp220= | |
| ENST00000369835.3:c.555T>C | ENSP00000358850.3:p.Asp185= | |
| ENST00000369842.8:c.660T>C | ENSP00000358857.4:p.Asp220= | |
| ENST00000428228.5:c.*565T>C | ENSP00000401081.1:n.*565T>C | |
| ENST00000471965.1:n.449T>C | ||
| ENST00000486738.5:n.1097T>C | ||
| ENST00000492448.1:n.643T>C | ||
| NM_000117.2:c.660T>C , LRG_745t1:c.660T>C | NP_000108.1:p.Asp220= | |
| XM_024452349.1:c.666T>C | XP_024308117.1:p.Asp222= | |
| NM_000117.3:c.660T>C MANE Select | NP_000108.1:p.Asp220= |