Linked Data
MyVariant Identifiers:
chrX:g.135741439T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659280T>C , CM000685.2:g.136659280T>C | GRCh38 |
| NC_000023.10:g.135741439T>C , CM000685.1:g.135741439T>C | GRCh37 |
| NC_000023.9:g.135569105T>C | NCBI36 |
| NG_007280.1:g.16104T>C , LRG_141:g.16104T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*269T>C | ENSP00000512122.1:n.*269T>C | |
| ENST00000695725.1:c.*206T>C | ENSP00000512123.1:n.*206T>C | |
| ENST00000695726.1:n.2619T>C | ||
| ENST00000695729.1:n.3454T>C | ||
| ENST00000370629.7:c.651T>C MANE Select | ENSP00000359663.2:p.Pro217= | |
| ENST00000370628.2:c.588T>C | ENSP00000359662.2:p.Pro196= | |
| ENST00000370629.6:c.651T>C | ENSP00000359663.2:p.Pro217= | |
| NM_000074.2:c.651T>C , LRG_141t1:c.651T>C | NP_000065.1:p.Pro217= | |
| NM_000074.3:c.651T>C MANE Select | NP_000065.1:p.Pro217= |