Linked Data
MyVariant Identifiers:
chrX:g.77378814T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123317T>C , CM000685.2:g.78123317T>C | GRCh38 |
| NC_000023.10:g.77378814T>C , CM000685.1:g.77378814T>C | GRCh37 |
| NC_000023.9:g.77265470T>C | NCBI36 |
| NG_008862.1:g.24149T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.879T>C MANE Select | ENSP00000362413.4:p.Asp293= | |
| ENST00000644362.1:c.795T>C | ENSP00000496140.1:p.Asp265= | |
| ENST00000373316.4:c.879T>C | ENSP00000362413.4:p.Asp293= | |
| ENST00000474281.1:n.286T>C | ||
| NM_000291.3:c.879T>C | NP_000282.1:p.Asp293= | |
| NM_000291.4:c.879T>C MANE Select | NP_000282.1:p.Asp293= |