Linked Data
MyVariant Identifiers:
chrX:g.37663198A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37803945A>C , CM000685.2:g.37803945A>C | GRCh38 |
| NC_000023.10:g.37663198A>C , CM000685.1:g.37663198A>C | GRCh37 |
| NC_000023.9:g.37548142A>C | NCBI36 |
| NG_009065.1:g.28929A>C , LRG_53:g.28929A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*475A>C | ENSP00000512461.1:n.*475A>C | |
| ENST00000696171.1:c.870A>C | ENSP00000512462.1:p.Gly290= | |
| ENST00000378588.5:c.966A>C MANE Select | ENSP00000367851.4:p.Gly322= | |
| ENST00000378588.4:c.966A>C | ENSP00000367851.4:p.Gly322= | |
| ENST00000465127.1:c.171+377945A>C | ENSP00000417050.1:n.171+377945A>C | |
| ENST00000492288.1:n.391A>C | ||
| NM_000397.3:c.966A>C , LRG_53t1:c.966A>C | NP_000388.2:p.Gly322= | |
| XM_011543890.1:c.660A>C | XP_011542192.1:p.Gly220= | |
| NM_000397.4:c.966A>C MANE Select | NP_000388.2:p.Gly322= |