Linked Data
MyVariant Identifiers:
chrX:g.48385381A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48526993A>G , CM000685.2:g.48526993A>G | GRCh38 |
| NC_000023.10:g.48385381A>G , CM000685.1:g.48385381A>G | GRCh37 |
| NC_000023.9:g.48270325A>G | NCBI36 |
| NG_007452.1:g.10218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.306A>G MANE Select | ENSP00000417052.1:p.Lys102= | |
| ENST00000651615.1:c.306A>G | ENSP00000498524.1:p.Lys102= | |
| ENST00000276096.10:n.264A>G | ||
| ENST00000414061.1:c.306A>G | ENSP00000405832.1:p.Lys102= | |
| ENST00000446158.5:c.306A>G | ENSP00000390031.1:p.Lys102= | |
| ENST00000466461.1:n.145A>G | ||
| ENST00000495186.5:c.306A>G | ENSP00000417052.1:p.Lys102= | |
| ENST00000498425.1:n.427A>G | ||
| NM_006579.2:c.306A>G | NP_006570.1:p.Lys102= | |
| NM_006579.3:c.306A>G MANE Select | NP_006570.1:p.Lys102= |