Linked Data
dbSNP Id:
rs1171582501
gnomAD v4:
X-37803817-C-T
MyVariant Identifiers:
chrX:g.37803817C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37803817C>T , CM000685.2:g.37803817C>T | GRCh38 |
| NC_000023.10:g.37663070C>T , CM000685.1:g.37663070C>T | GRCh37 |
| NC_000023.9:g.37548014C>T | NCBI36 |
| NG_009065.1:g.28801C>T , LRG_53:g.28801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*407-60C>T | ENSP00000512461.1:n.*407-60C>T | |
| ENST00000696171.1:c.802-60C>T | ENSP00000512462.1:n.802-60C>T | |
| ENST00000378588.5:c.898-60C>T MANE Select | ENSP00000367851.4:n.898-60C>T | |
| ENST00000378588.4:c.898-60C>T | ENSP00000367851.4:n.898-60C>T | |
| ENST00000465127.1:c.171+377817C>T | ENSP00000417050.1:n.171+377817C>T | |
| ENST00000492288.1:n.323-60C>T | ||
| NM_000397.3:c.898-60C>T , LRG_53t1:c.898-60C>T | NP_000388.2:n.898-60C>T | |
| XM_011543890.1:c.592-60C>T | XP_011542192.1:n.592-60C>T | |
| NM_000397.4:c.898-60C>T MANE Select | NP_000388.2:n.898-60C>T |