Linked Data
MyVariant Identifiers:
chrX:g.38535090G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675836G>T , CM000685.2:g.38675836G>T | GRCh38 |
| NC_000023.10:g.38535090G>T , CM000685.1:g.38535090G>T | GRCh37 |
| NC_000023.9:g.38420034G>T | NCBI36 |
| NG_009160.1:g.119360G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.573G>T MANE Select | ENSP00000367743.2:p.Val191= | |
| ENST00000286824.6:c.624G>T | ENSP00000286824.6:p.Val208= | |
| ENST00000378482.6:c.573G>T | ENSP00000367743.2:p.Val191= | |
| ENST00000419600.3:n.517G>T | ||
| ENST00000465127.1:c.663G>T | ENSP00000417050.1:p.Val221= | |
| ENST00000471410.5:c.*599G>T | ENSP00000419290.1:n.*599G>T | |
| ENST00000475216.5:c.*566G>T | ENSP00000418586.1:n.*566G>T | |
| NM_004615.3:c.573G>T | NP_004606.2:p.Val191= | |
| NM_004615.4:c.573G>T MANE Select | NP_004606.2:p.Val191= |