Linked Data
MyVariant Identifiers:
chrX:g.49957264T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192613T>G , CM000685.2:g.50192613T>G | GRCh38 |
| NC_000023.10:g.49957264T>G , CM000685.1:g.49957264T>G | GRCh37 |
| NC_000023.9:g.49844004T>G | NCBI36 |
| NG_012552.1:g.13401A>C | |
| NG_012552.2:g.13401A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2100A>C MANE Select | ENSP00000351327.2:p.Leu700= | |
| ENST00000358526.6:c.2100A>C | ENSP00000351327.2:p.Leu700= | |
| ENST00000376064.7:c.2073A>C | ENSP00000365232.3:p.Leu691= | |
| ENST00000481402.5:n.2212A>C | ||
| NM_003886.2:c.2100A>C | NP_003877.2:p.Leu700= | |
| NM_139289.1:c.2073A>C | NP_647450.1:p.Leu691= | |
| NM_003886.3:c.2100A>C MANE Select | NP_003877.2:p.Leu700= | |
| NM_139289.2:c.2073A>C | NP_647450.1:p.Leu691= |