Linked Data
MyVariant Identifiers:
chrX:g.38535036C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675782C>T , CM000685.2:g.38675782C>T | GRCh38 |
| NC_000023.10:g.38535036C>T , CM000685.1:g.38535036C>T | GRCh37 |
| NC_000023.9:g.38419980C>T | NCBI36 |
| NG_009160.1:g.119306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.519C>T MANE Select | ENSP00000367743.2:p.Ser173= | |
| ENST00000286824.6:c.570C>T | ENSP00000286824.6:p.Ser190= | |
| ENST00000378482.6:c.519C>T | ENSP00000367743.2:p.Ser173= | |
| ENST00000419600.3:n.463C>T | ||
| ENST00000465127.1:c.609C>T | ENSP00000417050.1:p.Ser203= | |
| ENST00000471410.5:c.*545C>T | ENSP00000419290.1:n.*545C>T | |
| ENST00000475216.5:c.*512C>T | ENSP00000418586.1:n.*512C>T | |
| ENST00000488893.5:n.702C>T | ||
| NM_004615.3:c.519C>T | NP_004606.2:p.Ser173= | |
| NM_004615.4:c.519C>T MANE Select | NP_004606.2:p.Ser173= |