Linked Data
MyVariant Identifiers:
chrX:g.47432317T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572918T>C , CM000685.2:g.47572918T>C | GRCh38 |
| NC_000023.10:g.47432317T>C , CM000685.1:g.47432317T>C | GRCh37 |
| NC_000023.9:g.47317261T>C | NCBI36 |
| NG_008437.1:g.51940A>G | |
| NG_016339.1:g.16802T>C | |
| NG_016339.2:g.16802T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.2064A>G MANE Select | ENSP00000295987.7:p.Lys688= | |
| ENST00000340666.5:c.*16A>G | ENSP00000343206.4:n.*16A>G | |
| ENST00000640721.1:c.114A>G | ENSP00000492857.1:p.Lys38= | |
| ENST00000295987.11:c.2064A>G | ENSP00000295987.7:p.Lys688= | |
| ENST00000340666.4:c.*16A>G | ENSP00000343206.4:n.*16A>G | |
| NM_006950.3:c.2064A>G MANE Select | NP_008881.2:p.Lys688= | |
| NM_133499.2:c.*16A>G | NP_598006.1:n.*16A>G |